{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6748701",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546570[alleleid]",
        "alleleId": 546570,
        "preferredName": "NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551555",
        "RCV": [
          "RCV000666644"
        ],
        "variationId": 551555
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-103234208-G-T",
        "id": "12-103234208-G-T",
        "variant": "12:103234208 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103234208G>T?assembly=hg19",
        "id": "chr12:g.103234208G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102840430G>T?assembly=hg38",
        "id": "chr12:g.102840430G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764974157",
        "rs": 764974157
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103234208-G-T?dataset=gnomad_r2_1",
        "id": "12-103234208-G-T",
        "variant": "12:103234208 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102840430-G-T?dataset=gnomad_r3",
        "id": "12-102840430-G-T",
        "variant": "12:102840430 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102840430-G-T?dataset=gnomad_r4",
        "id": "12-102840430-G-T",
        "variant": "12:102840430 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102840430,
          "referenceAllele": "G",
          "start": 102840429
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102840430G>T",
        "CM000674.2:g.102840430G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103234208,
          "referenceAllele": "G",
          "start": 103234207
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103234208G>T",
        "CM000674.1:g.103234208G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101758338,
          "referenceAllele": "G",
          "start": 101758337
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101758338G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82173,
          "referenceAllele": "C",
          "start": 82172
        }
      ],
      "hgvs": [
        "NG_008690.1:g.82173C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122981,
          "referenceAllele": "C",
          "start": 122980
        }
      ],
      "hgvs": [
        "NG_008690.2:g.122981C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln429Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1285C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1285C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln429Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln429Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1270C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln424Lys",
        "hgvsWellDefined": "ENSP00000303500.2:p.Gln424Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.947C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "C",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln429Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.389C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.800C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825363",
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln429Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1228C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln410Lys",
        "hgvsWellDefined": "XP_011536724.1:p.Gln410Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825363",
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "C",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln429Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037851",
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln429Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825363",
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln429Lys",
        "hgvsWellDefined": "NP_000268.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1285C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1285C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln429Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln429Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037851",
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1285C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln429Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Gln429Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}