{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386296544",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.703C>A (p.Gln235Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1345509[alleleid]",
        "alleleId": 1345509,
        "preferredName": "NM_000277.3(PAH):c.703C>A (p.Gln235Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1384686",
        "RCV": [
          "RCV001897774"
        ],
        "variationId": 1384686
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103248917G>T?assembly=hg19",
        "id": "chr12:g.103248917G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102855139G>T?assembly=hg38",
        "id": "chr12:g.102855139G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1237792711",
        "rs": 1237792711
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103248917-G-T?dataset=gnomad_r2_1",
        "id": "12-103248917-G-T",
        "variant": "12:103248917 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102855139-G-T?dataset=gnomad_r4",
        "id": "12-102855139-G-T",
        "variant": "12:102855139 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102855139,
          "referenceAllele": "G",
          "start": 102855138
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855139G>T",
        "CM000674.2:g.102855139G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103248917,
          "referenceAllele": "G",
          "start": 103248916
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248917G>T",
        "CM000674.1:g.103248917G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101773047,
          "referenceAllele": "G",
          "start": 101773046
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773047G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67464,
          "referenceAllele": "C",
          "start": 67463
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67464C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108272,
          "referenceAllele": "C",
          "start": 108271
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108272C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln235Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.703C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.703C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln235Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln235Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.688C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln230Lys",
        "hgvsWellDefined": "ENSP00000303500.2:p.Gln230Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.799C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln235Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138047",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln235Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln235Lys",
        "hgvsWellDefined": "XP_011536724.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138047",
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln235Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573206170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln235Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Gln235Lys",
        "hgvsWellDefined": "XP_016874859.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138047",
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln235Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.703C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.703C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln235Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln235Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573206170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln235Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Gln235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}