{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229504",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.275C>T (p.Thr92Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108379[alleleid]",
        "alleleId": 108379,
        "preferredName": "NM_000277.3(PAH):c.275C>T (p.Thr92Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102643",
        "RCV": [
          "RCV000088888",
          "RCV001854512"
        ],
        "variationId": 102643
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-103288590-G-A",
        "id": "12-103288590-G-A",
        "variant": "12:103288590 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103288590G>A?assembly=hg19",
        "id": "chr12:g.103288590G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102894812G>A?assembly=hg38",
        "id": "chr12:g.102894812G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62514903",
        "rs": 62514903
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103288590-G-A?dataset=gnomad_r2_1",
        "id": "12-103288590-G-A",
        "variant": "12:103288590 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102894812-G-A?dataset=gnomad_r3",
        "id": "12-102894812-G-A",
        "variant": "12:102894812 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102894812-G-A?dataset=gnomad_r4",
        "id": "12-102894812-G-A",
        "variant": "12:102894812 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102894812,
          "referenceAllele": "G",
          "start": 102894811
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102894812G>A",
        "CM000674.2:g.102894812G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103288590,
          "referenceAllele": "G",
          "start": 103288589
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103288590G>A",
        "CM000674.1:g.103288590G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101812720,
          "referenceAllele": "G",
          "start": 101812719
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101812720G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27791,
          "referenceAllele": "C",
          "start": 27790
        }
      ],
      "hgvs": [
        "NG_008690.1:g.27791C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68599,
          "referenceAllele": "C",
          "start": 68598
        }
      ],
      "hgvs": [
        "NG_008690.2:g.68599C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr92Ile",
        "hgvsWellDefined": "ENSP00000448059.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.275C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.275C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr92Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr92Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.260C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Thr87Ile",
        "hgvsWellDefined": "ENSP00000303500.2:p.Thr87Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000546844.1:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446658.1:p.Thr92Ile",
        "hgvsWellDefined": "ENSP00000446658.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548677.2:n.362C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548928.1:n.197C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.259C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Thr92Ile",
        "hgvsWellDefined": "ENSP00000447620.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.364C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr92Ile",
        "hgvsWellDefined": "ENSP00000448059.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106652",
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr92Ile",
        "hgvsWellDefined": "NP_000268.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Thr92Ile",
        "hgvsWellDefined": "XP_011536724.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106652",
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr92Ile",
        "hgvsWellDefined": "NP_000268.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037415",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr92Ile",
        "hgvsWellDefined": "NP_001341233.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Thr92Ile",
        "hgvsWellDefined": "XP_016874859.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106652",
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr92Ile",
        "hgvsWellDefined": "NP_000268.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.275C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.275C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr92Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr92Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037415",
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr92Ile",
        "hgvsWellDefined": "NP_001341233.1:p.Thr92Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}