{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2620525449",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.706+362T>C"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102854774-A-G?dataset=gnomad_r4",
        "id": "12-102854774-A-G",
        "variant": "12:102854774 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102854774,
          "referenceAllele": "A",
          "start": 102854773
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102854774A>G",
        "CM000674.2:g.102854774A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103248552,
          "referenceAllele": "A",
          "start": 103248551
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248552A>G",
        "CM000674.1:g.103248552A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101772682,
          "referenceAllele": "A",
          "start": 101772681
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101772682A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67829,
          "referenceAllele": "T",
          "start": 67828
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67829T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108637,
          "referenceAllele": "T",
          "start": 108636
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108637T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+362T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+362T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+362T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+362T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 962,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.691+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.691+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.1164T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 821,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 1017,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.*11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:n.*11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+362T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+362T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+362T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+362T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 362,
          "referenceAllele": "T",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.706+362T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+362T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}