{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA299804865",
  "communityStandardTitle": [
    "NM_001384474.1(LOXHD1):c.4090G>A (p.Val1364Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6430344",
        "active": true,
        "id": "COSM6430344"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6430345",
        "active": true,
        "id": "COSM6430345"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6430346",
        "active": true,
        "id": "COSM6430346"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.44118124C>T?assembly=hg19",
        "id": "chr18:g.44118124C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.46538161C>T?assembly=hg38",
        "id": "chr18:g.46538161C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144935513",
        "rs": 144935513
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-44118124-C-T?dataset=gnomad_r2_1",
        "id": "18-44118124-C-T",
        "variant": "18:44118124 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-46538161-C-T?dataset=gnomad_r3",
        "id": "18-46538161-C-T",
        "variant": "18:46538161 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-46538161-C-T?dataset=gnomad_r4",
        "id": "18-46538161-C-T",
        "variant": "18:46538161 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 46538161,
          "referenceAllele": "C",
          "start": 46538160
        }
      ],
      "hgvs": [
        "NC_000018.10:g.46538161C>T",
        "CM000680.2:g.46538161C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 44118124,
          "referenceAllele": "C",
          "start": 44118123
        }
      ],
      "hgvs": [
        "NC_000018.9:g.44118124C>T",
        "CM000680.1:g.44118124C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 42372122,
          "referenceAllele": "C",
          "start": 42372121
        }
      ],
      "hgvs": [
        "NC_000018.8:g.42372122C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123873,
          "referenceAllele": "G",
          "start": 123872
        }
      ],
      "hgvs": [
        "NG_016646.1:g.123873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123873,
          "referenceAllele": "G",
          "start": 123872
        }
      ],
      "hgvs": [
        "NG_016646.2:g.123873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000300591.11:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300591.6:p.Val253Ile",
        "hgvsWellDefined": "ENSP00000300591.6:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000579038.6:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463285.1:p.Val157Ile",
        "hgvsWellDefined": "ENSP00000463285.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000582408.6:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461964.1:p.Val253Ile",
        "hgvsWellDefined": "ENSP00000461964.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "G",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000642948.1:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496347.1:p.Val1364Ile",
        "hgvsWellDefined": "ENSP00000496347.1:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642948.1:c.4090G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001384474.1:c.4090G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496347.1:p.Val1364Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001371403.1:p.Val1364Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000300591.10:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300591.6:p.Val253Ile",
        "hgvsWellDefined": "ENSP00000300591.6:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3403,
          "referenceAllele": "G",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000335730.6:n.3403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS260182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3472,
          "referenceAllele": "G",
          "start": 3471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000441551.6:c.3472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387621.2:p.Val1158Ile",
        "hgvsWellDefined": "ENSP00000387621.2:p.Val1158Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000536111.1:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440060.1:p.Val266Ile",
        "hgvsWellDefined": "ENSP00000440060.1:p.Val266Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4090,
          "referenceAllele": "G",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000536736.5:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444586.1:p.Val1364Ile",
        "hgvsWellDefined": "ENSP00000444586.1:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000579038.5:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463285.1:p.Val157Ile",
        "hgvsWellDefined": "ENSP00000463285.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "ENST00000582408.5:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461964.1:p.Val253Ile",
        "hgvsWellDefined": "ENSP00000461964.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001145472.2:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138944.1:p.Val253Ile",
        "hgvsWellDefined": "NP_001138944.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001308013.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294942.1:p.Val157Ile",
        "hgvsWellDefined": "NP_001294942.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085451879",
      "coordinates": [
        {
          "allele": "A",
          "end": 4090,
          "referenceAllele": "G",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_144612.6:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653213.6:p.Val1364Ile",
        "hgvsWellDefined": "NP_653213.6:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722388.2:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722451.1:p.Val297Ile",
        "hgvsWellDefined": "XP_006722451.1:p.Val297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722389.2:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722452.1:p.Val253Ile",
        "hgvsWellDefined": "XP_006722452.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722390.2:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722453.1:p.Val253Ile",
        "hgvsWellDefined": "XP_006722453.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722391.2:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722454.1:p.Val297Ile",
        "hgvsWellDefined": "XP_006722454.1:p.Val297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4171,
          "referenceAllele": "G",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525803.1:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524105.1:p.Val1364Ile",
        "hgvsWellDefined": "XP_011524105.1:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525804.1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524106.1:p.Val751Ile",
        "hgvsWellDefined": "XP_011524106.1:p.Val751Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525805.1:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524107.1:p.Val252Ile",
        "hgvsWellDefined": "XP_011524107.1:p.Val252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525806.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524108.1:p.Val157Ile",
        "hgvsWellDefined": "XP_011524108.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525807.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524109.1:p.Val157Ile",
        "hgvsWellDefined": "XP_011524109.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525809.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524111.1:p.Val157Ile",
        "hgvsWellDefined": "XP_011524111.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722388.3:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722451.1:p.Val297Ile",
        "hgvsWellDefined": "XP_006722451.1:p.Val297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722389.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722452.1:p.Val253Ile",
        "hgvsWellDefined": "XP_006722452.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722390.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722453.1:p.Val253Ile",
        "hgvsWellDefined": "XP_006722453.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_006722391.3:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722454.1:p.Val297Ile",
        "hgvsWellDefined": "XP_006722454.1:p.Val297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2324,
          "referenceAllele": "G",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_011525804.2:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524106.1:p.Val751Ile",
        "hgvsWellDefined": "XP_011524106.1:p.Val751Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_017025548.1:c.3472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881037.1:p.Val1158Ile",
        "hgvsWellDefined": "XP_016881037.1:p.Val1158Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2707,
          "referenceAllele": "G",
          "start": 2706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451084.1:c.2572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306852.1:p.Val858Ile",
        "hgvsWellDefined": "XP_024306852.1:p.Val858Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451085.1:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306853.1:p.Val252Ile",
        "hgvsWellDefined": "XP_024306853.1:p.Val252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451086.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306854.1:p.Val157Ile",
        "hgvsWellDefined": "XP_024306854.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451087.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306855.1:p.Val157Ile",
        "hgvsWellDefined": "XP_024306855.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "XM_024451088.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306856.1:p.Val157Ile",
        "hgvsWellDefined": "XP_024306856.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001145472.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138944.1:p.Val253Ile",
        "hgvsWellDefined": "NP_001138944.1:p.Val253Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001308013.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294942.1:p.Val157Ile",
        "hgvsWellDefined": "NP_001294942.1:p.Val157Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "G",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_001384474.1:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371403.1:p.Val1364Ile",
        "hgvsWellDefined": "NP_001371403.1:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642948.1:c.4090G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001384474.1:c.4090G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496347.1:p.Val1364Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001371403.1:p.Val1364Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085451879",
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "G",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NM_144612.7:c.4090G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653213.6:p.Val1364Ile",
        "hgvsWellDefined": "NP_653213.6:p.Val1364Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729239"
    }
  ],
  "type": "nucleotide"
}