{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114369",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1139C>T (p.Thr380Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15667[alleleid]",
        "alleleId": 15667,
        "preferredName": "NM_000277.3(PAH):c.1139C>T (p.Thr380Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/628",
        "RCV": [
          "RCV000000660",
          "RCV000078502",
          "RCV000150077",
          "RCV000850463",
          "RCV001280537",
          "RCV003390629",
          "RCV003258654"
        ],
        "variationId": 628
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-103237484-G-A",
        "id": "12-103237484-G-A",
        "variant": "12:103237484 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237484G>A?assembly=hg19",
        "id": "chr12:g.103237484G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843706G>A?assembly=hg38",
        "id": "chr12:g.102843706G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62642937",
        "rs": 62642937
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103237484-G-A?dataset=gnomad_r2_1",
        "id": "12-103237484-G-A",
        "variant": "12:103237484 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102843706-G-A?dataset=gnomad_r3",
        "id": "12-102843706-G-A",
        "variant": "12:102843706 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102843706-G-A?dataset=gnomad_r4",
        "id": "12-102843706-G-A",
        "variant": "12:102843706 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102843706,
          "referenceAllele": "G",
          "start": 102843705
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843706G>A",
        "CM000674.2:g.102843706G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103237484,
          "referenceAllele": "G",
          "start": 103237483
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237484G>A",
        "CM000674.1:g.103237484G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101761614,
          "referenceAllele": "G",
          "start": 101761613
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761614G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78897,
          "referenceAllele": "C",
          "start": 78896
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78897C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119705,
          "referenceAllele": "C",
          "start": 119704
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119705C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr380Met",
        "hgvsWellDefined": "ENSP00000448059.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr380Met"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr380Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Thr375Met",
        "hgvsWellDefined": "ENSP00000303500.2:p.Thr375Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.898C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.801C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr380Met",
        "hgvsWellDefined": "ENSP00000448059.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.243C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.654C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106635",
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr380Met",
        "hgvsWellDefined": "NP_000268.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Thr361Met",
        "hgvsWellDefined": "XP_011536724.1:p.Thr361Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106635",
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr380Met",
        "hgvsWellDefined": "NP_000268.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037798",
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr380Met",
        "hgvsWellDefined": "NP_001341233.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106635",
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr380Met",
        "hgvsWellDefined": "NP_000268.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr380Met"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr380Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037798",
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr380Met",
        "hgvsWellDefined": "NP_001341233.1:p.Thr380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}