{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059448169",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1036G= (p.Gly346=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62508688",
        "rs": 62508688
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102844365,
          "referenceAllele": "C",
          "start": 102844364
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102844365C=",
        "CM000674.2:g.102844365C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103238143,
          "referenceAllele": "C",
          "start": 103238142
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103238143C=",
        "CM000674.1:g.103238143C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101762273,
          "referenceAllele": "C",
          "start": 101762272
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101762273C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78238,
          "referenceAllele": "G",
          "start": 78237
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78238G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119046,
          "referenceAllele": "G",
          "start": 119045
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119046G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1036G="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1036G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly346="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly346="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gly341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.795G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.698G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.140G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.551G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.979G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gly327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249493436",
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280675",
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1036G="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1036G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly346="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly346="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249493436",
      "coordinates": [
        {
          "allele": "G",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}