{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229398",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108303[alleleid]",
        "alleleId": 108303,
        "preferredName": "NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102567",
        "RCV": [
          "RCV000088801",
          "RCV000758128"
        ],
        "variationId": 102567
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103234276A>G?assembly=hg19",
        "id": "chr12:g.103234276A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102840498A>G?assembly=hg38",
        "id": "chr12:g.102840498A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62644469",
        "rs": 62644469
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102840498,
          "referenceAllele": "A",
          "start": 102840497
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102840498A>G",
        "CM000674.2:g.102840498A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103234276,
          "referenceAllele": "A",
          "start": 103234275
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103234276A>G",
        "CM000674.1:g.103234276A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101758406,
          "referenceAllele": "A",
          "start": 101758405
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101758406A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82105,
          "referenceAllele": "T",
          "start": 82104
        }
      ],
      "hgvs": [
        "NG_008690.1:g.82105T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122913,
          "referenceAllele": "T",
          "start": 122912
        }
      ],
      "hgvs": [
        "NG_008690.2:g.122913T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "T",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile406Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1217T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1217T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile406Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile406Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ile401Thr",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ile401Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "T",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.879T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "T",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile406Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.321T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "T",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.732T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile406Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1275,
          "referenceAllele": "T",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1160T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ile387Thr",
        "hgvsWellDefined": "XP_011536724.1:p.Ile387Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "T",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile406Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037825",
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile406Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "T",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile406Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1217T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1217T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile406Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile406Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037825",
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "T",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1217T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile406Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ile406Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}