{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA481332102",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.474G>A (p.Arg158=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5373984",
        "active": true,
        "id": "COSM5373984"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1122252[alleleid]",
        "alleleId": 1122252,
        "preferredName": "NM_000277.3(PAH):c.474G>A (p.Arg158=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1138530",
        "RCV": [
          "RCV001474901"
        ],
        "variationId": 1138530
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103260409C>T?assembly=hg19",
        "id": "chr12:g.103260409C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2136663312",
        "rs": 2136663312
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102866631-C-T?dataset=gnomad_r4",
        "id": "12-102866631-C-T",
        "variant": "12:102866631 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102866631,
          "referenceAllele": "C",
          "start": 102866630
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102866631C>T",
        "CM000674.2:g.102866631C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103260409,
          "referenceAllele": "C",
          "start": 103260408
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103260409C>T",
        "CM000674.1:g.103260409C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101784539,
          "referenceAllele": "C",
          "start": 101784538
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101784539C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55972,
          "referenceAllele": "G",
          "start": 55971
        }
      ],
      "hgvs": [
        "NG_008690.1:g.55972G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96780,
          "referenceAllele": "G",
          "start": 96779
        }
      ],
      "hgvs": [
        "NG_008690.2:g.96780G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.474G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.474G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Arg158="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Arg158="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.459G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Arg153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.570G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 10831,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 10830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.530+10831G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137968",
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137968",
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838343",
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137968",
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.474G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.474G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Arg158="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Arg158="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838343",
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Arg158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}