{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377154442",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.3629A>C (p.Gln1210Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73490275A>C?assembly=hg19",
        "id": "chr10:g.73490275A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71730518A>C?assembly=hg38",
        "id": "chr10:g.71730518A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71730518,
          "referenceAllele": "A",
          "start": 71730517
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71730518A>C",
        "CM000672.2:g.71730518A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73490275,
          "referenceAllele": "A",
          "start": 73490274
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73490275A>C",
        "CM000672.1:g.73490275A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73160281,
          "referenceAllele": "A",
          "start": 73160280
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73160281A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338572,
          "referenceAllele": "A",
          "start": 338571
        }
      ],
      "hgvs": [
        "NG_008835.1:g.338572A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "A",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Gln1210Pro",
        "hgvsWellDefined": "ENSP00000224721.9:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3629A>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3629A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gln1210Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gln1210Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4016,
          "referenceAllele": "A",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.9:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Gln1209Pro",
        "hgvsWellDefined": "ENSP00000381789.5:p.Gln1209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4034,
          "referenceAllele": "A",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.3644A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Gln1215Pro",
        "hgvsWellDefined": "ENSP00000224721.8:p.Gln1215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 7210,
          "referenceAllele": "T",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "ENST00000398786.2:c.-6+7210T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381766.3:n.-6+7210T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398792.3:n.321A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4016,
          "referenceAllele": "A",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.8:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Gln1209Pro",
        "hgvsWellDefined": "ENSP00000381789.5:p.Gln1209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3991,
          "referenceAllele": "A",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000616684.4:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482036.2:p.Gln1210Pro",
        "hgvsWellDefined": "ENSP00000482036.2:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Gln1210Pro",
        "hgvsWellDefined": "ENSP00000483211.1:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 7210,
          "referenceAllele": "T",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.1:c.-6+7210T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.-6+7210T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.1:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Gln1210Pro",
        "hgvsWellDefined": "NP_001165401.1:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gln1210Pro",
        "hgvsWellDefined": "NP_071407.4:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_006718003.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4001,
          "referenceAllele": "A",
          "start": 4000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.3758A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Gln1253Pro",
        "hgvsWellDefined": "XP_006718005.1:p.Gln1253Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538341.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4061,
          "referenceAllele": "A",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.3818A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Gln1273Pro",
        "hgvsWellDefined": "XP_011538342.1:p.Gln1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4019,
          "referenceAllele": "A",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.3764A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Gln1255Pro",
        "hgvsWellDefined": "XP_011538343.1:p.Gln1255Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538344.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538345.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3751,
          "referenceAllele": "A",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.3689A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Gln1230Pro",
        "hgvsWellDefined": "XP_011538346.1:p.Gln1230Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538347.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3489,
          "referenceAllele": "A",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.3284A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Gln1095Pro",
        "hgvsWellDefined": "XP_011538348.1:p.Gln1095Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2657,
          "referenceAllele": "A",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.2642A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Gln881Pro",
        "hgvsWellDefined": "XP_011538349.1:p.Gln881Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538350.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538351.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538352.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538353.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "A",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.152A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Gln51Pro",
        "hgvsWellDefined": "XP_011538354.1:p.Gln51Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.3824A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Gln1275Pro",
        "hgvsWellDefined": "XP_011538355.1:p.Gln1275Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4067,
          "referenceAllele": "A",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.4067A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 7210,
          "referenceAllele": "T",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.2:c.-6+7210T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.-6+7210T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "A",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Gln1210Pro",
        "hgvsWellDefined": "NP_001165401.1:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "A",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.3629A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gln1210Pro",
        "hgvsWellDefined": "NP_071407.4:p.Gln1210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3629A>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3629A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gln1210Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gln1210Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}