{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602335",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.971T>A (p.Ile324Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2843201[alleleid]",
        "alleleId": 2843201,
        "preferredName": "NM_000277.3(PAH):c.971T>A (p.Ile324Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2682170",
        "RCV": [
          "RCV003479543"
        ],
        "variationId": 2682170
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103238208A>T?assembly=hg19",
        "id": "chr12:g.103238208A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102844430A>T?assembly=hg38",
        "id": "chr12:g.102844430A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2499615233",
        "rs": 2499615233
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102844430,
          "referenceAllele": "A",
          "start": 102844429
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102844430A>T",
        "CM000674.2:g.102844430A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103238208,
          "referenceAllele": "A",
          "start": 103238207
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103238208A>T",
        "CM000674.1:g.103238208A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101762338,
          "referenceAllele": "A",
          "start": 101762337
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101762338A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78173,
          "referenceAllele": "T",
          "start": 78172
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78173T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118981,
          "referenceAllele": "T",
          "start": 118980
        }
      ],
      "hgvs": [
        "NG_008690.2:g.118981T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile324Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.971T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.971T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile324Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile324Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "T",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.956T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ile319Asn",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ile319Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "T",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.730T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "T",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.633T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "T",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile324Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "referenceAllele": "T",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.75T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "T",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.486T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138141",
      "coordinates": [
        {
          "allele": "A",
          "end": 1443,
          "referenceAllele": "T",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile324Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.914T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ile305Asn",
        "hgvsWellDefined": "XP_011536724.1:p.Ile305Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138141",
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "T",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile324Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741867156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "T",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile324Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138141",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile324Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.971T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.971T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile324Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile324Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741867156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.971T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile324Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Ile324Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}