{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059443726",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.912+464A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1875134813",
        "rs": 1875134813
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102851223,
          "referenceAllele": "T",
          "start": 102851222
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102851223T=",
        "CM000674.2:g.102851223T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103245001,
          "referenceAllele": "T",
          "start": 103245000
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103245001T=",
        "CM000674.1:g.103245001T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101769131,
          "referenceAllele": "T",
          "start": 101769130
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101769131T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71380,
          "referenceAllele": "A",
          "start": 71379
        }
      ],
      "hgvs": [
        "NG_008690.1:g.71380A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112188,
          "referenceAllele": "A",
          "start": 112187
        }
      ],
      "hgvs": [
        "NG_008690.2:g.112188A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1026,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.912+464A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.912+464A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.912+464A="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.912+464A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1168,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.897+464A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.897+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.671+464A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 574,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.574+464A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1385,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 73,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.73+464A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1384,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1384,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1027,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1385,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1026,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.912+464A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.912+464A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.912+464A="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.912+464A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "endIntronDirection": "+",
          "endIntronOffset": 464,
          "referenceAllele": "A",
          "start": 1254,
          "startIntronDirection": "+",
          "startIntronOffset": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.912+464A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.912+464A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}