{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA682806524",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.706+22T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103248892A>C?assembly=hg19",
        "id": "chr12:g.103248892A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102855114A>C?assembly=hg38",
        "id": "chr12:g.102855114A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1165756933",
        "rs": 1165756933
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102855114-A-C?dataset=gnomad_r3",
        "id": "12-102855114-A-C",
        "variant": "12:102855114 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102855114-A-C?dataset=gnomad_r4",
        "id": "12-102855114-A-C",
        "variant": "12:102855114 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102855114,
          "referenceAllele": "A",
          "start": 102855113
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855114A>C",
        "CM000674.2:g.102855114A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103248892,
          "referenceAllele": "A",
          "start": 103248891
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248892A>C",
        "CM000674.1:g.103248892A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101773022,
          "referenceAllele": "A",
          "start": 101773021
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773022A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67489,
          "referenceAllele": "T",
          "start": 67488
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67489T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108297,
          "referenceAllele": "T",
          "start": 108296
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108297T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+22T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+22T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+22T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+22T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 962,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.691+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.691+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.824T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 821,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 1017,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+22T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+22T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+22T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+22T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "T",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.706+22T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+22T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}