{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059446503",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1157A= (p.Tyr386=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62516141",
        "rs": 62516141
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102843688,
          "referenceAllele": "T",
          "start": 102843687
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843688T=",
        "CM000674.2:g.102843688T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103237466,
          "referenceAllele": "T",
          "start": 103237465
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237466T=",
        "CM000674.1:g.103237466T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101761596,
          "referenceAllele": "T",
          "start": 101761595
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761596T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78915,
          "referenceAllele": "A",
          "start": 78914
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78915A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119723,
          "referenceAllele": "A",
          "start": 119722
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119723A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1157A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1157A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Tyr386="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Tyr386="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1413,
          "referenceAllele": "A",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1142A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Tyr381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.916A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.819A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "referenceAllele": "A",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.261A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.672A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138214",
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "A",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "A",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1100A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Tyr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138214",
      "coordinates": [
        {
          "allele": "A",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838436",
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "A",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138214",
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1157A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1157A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Tyr386="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Tyr386="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838436",
      "coordinates": [
        {
          "allele": "A",
          "end": 1499,
          "referenceAllele": "A",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Tyr386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}