{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA481330856",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.936T>G (p.Gly312=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103240706A>C?assembly=hg19",
        "id": "chr12:g.103240706A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102846928,
          "referenceAllele": "A",
          "start": 102846927
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102846928A>C",
        "CM000674.2:g.102846928A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103240706,
          "referenceAllele": "A",
          "start": 103240705
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103240706A>C",
        "CM000674.1:g.103240706A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101764836,
          "referenceAllele": "A",
          "start": 101764835
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101764836A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75675,
          "referenceAllele": "T",
          "start": 75674
        }
      ],
      "hgvs": [
        "NG_008690.1:g.75675T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116483,
          "referenceAllele": "T",
          "start": 116482
        }
      ],
      "hgvs": [
        "NG_008690.2:g.116483T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.936T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.936T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly312="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly312="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "T",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.921T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gly307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "T",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.695T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.598T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73,
          "endIntronDirection": "-",
          "endIntronOffset": 2496,
          "referenceAllele": "T",
          "start": 73,
          "startIntronDirection": "-",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.74-2497T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.451T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "endIntronDirection": "-",
          "endIntronOffset": 2496,
          "referenceAllele": "T",
          "start": 1027,
          "startIntronDirection": "-",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.913-2497T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.913-2497T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838402",
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "T",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.936T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.936T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gly312="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gly312="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838402",
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "T",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.936T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gly312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}