{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3021979919",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.706+538A>G"
  ],
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102854598,
          "referenceAllele": "T",
          "start": 102854597
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102854598T>C",
        "CM000674.2:g.102854598T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103248376,
          "referenceAllele": "T",
          "start": 103248375
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248376T>C",
        "CM000674.1:g.103248376T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101772506,
          "referenceAllele": "T",
          "start": 101772505
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101772506T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68005,
          "referenceAllele": "A",
          "start": 68004
        }
      ],
      "hgvs": [
        "NG_008690.1:g.68005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108813,
          "referenceAllele": "A",
          "start": 108812
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108813A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+538A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+538A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+538A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+538A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 962,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.691+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.691+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 821,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 1017,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "A",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.*187A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:n.*187A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+538A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+538A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+538A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+538A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "A",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.706+538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+538A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}