{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251544",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.194T>C (p.Ile65Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15675[alleleid]",
        "alleleId": 15675,
        "preferredName": "NM_000277.3(PAH):c.194T>C (p.Ile65Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/636",
        "RCV": [
          "RCV000000668",
          "RCV000078516",
          "RCV002251847",
          "RCV003398402",
          "RCV004018528"
        ],
        "variationId": 636
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-103288671-A-G",
        "id": "12-103288671-A-G",
        "variant": "12:103288671 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103288671A>G?assembly=hg19",
        "id": "chr12:g.103288671A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102894893A>G?assembly=hg38",
        "id": "chr12:g.102894893A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75193786",
        "rs": 75193786
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103288671-A-G?dataset=gnomad_r2_1",
        "id": "12-103288671-A-G",
        "variant": "12:103288671 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102894893-A-G?dataset=gnomad_r3",
        "id": "12-102894893-A-G",
        "variant": "12:102894893 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102894893-A-G?dataset=gnomad_r4",
        "id": "12-102894893-A-G",
        "variant": "12:102894893 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102894893,
          "referenceAllele": "A",
          "start": 102894892
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102894893A>G",
        "CM000674.2:g.102894893A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103288671,
          "referenceAllele": "A",
          "start": 103288670
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103288671A>G",
        "CM000674.1:g.103288671A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101812801,
          "referenceAllele": "A",
          "start": 101812800
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101812801A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27710,
          "referenceAllele": "T",
          "start": 27709
        }
      ],
      "hgvs": [
        "NG_008690.1:g.27710T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68518,
          "referenceAllele": "T",
          "start": 68517
        }
      ],
      "hgvs": [
        "NG_008690.2:g.68518T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile65Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.194T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.194T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile65Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile65Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "T",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.179T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ile60Thr",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ile60Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "T",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000546844.1:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446658.1:p.Ile65Thr",
        "hgvsWellDefined": "ENSP00000446658.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "T",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548677.2:n.281T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "referenceAllele": "T",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548928.1:n.116T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.290T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "referenceAllele": "T",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.178T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "T",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Ile65Thr",
        "hgvsWellDefined": "ENSP00000447620.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.283T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile65Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "referenceAllele": "T",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635500.1:n.162T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105965",
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "referenceAllele": "T",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile65Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 309,
          "referenceAllele": "T",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ile65Thr",
        "hgvsWellDefined": "XP_011536724.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105965",
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile65Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037391",
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "referenceAllele": "T",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile65Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Ile65Thr",
        "hgvsWellDefined": "XP_016874859.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105965",
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile65Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.194T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.194T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile65Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile65Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037391",
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "T",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.194T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile65Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ile65Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}