{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA951231923",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.969+295T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1874855221",
        "rs": 1874855221
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102846600-A-G?dataset=gnomad_r3",
        "id": "12-102846600-A-G",
        "variant": "12:102846600 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102846600-A-G?dataset=gnomad_r4",
        "id": "12-102846600-A-G",
        "variant": "12:102846600 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102846600,
          "referenceAllele": "A",
          "start": 102846599
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102846600A>G",
        "CM000674.2:g.102846600A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103240378,
          "referenceAllele": "A",
          "start": 103240377
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103240378A>G",
        "CM000674.1:g.103240378A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101764508,
          "referenceAllele": "A",
          "start": 101764507
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101764508A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76003,
          "referenceAllele": "T",
          "start": 76002
        }
      ],
      "hgvs": [
        "NG_008690.1:g.76003T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116811,
          "referenceAllele": "T",
          "start": 116810
        }
      ],
      "hgvs": [
        "NG_008690.2:g.116811T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.969+295T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.969+295T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.969+295T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.969+295T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1225,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.954+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.954+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.728+295T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.631+295T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1442,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "endIntronDirection": "-",
          "endIntronOffset": 2168,
          "referenceAllele": "T",
          "start": 73,
          "startIntronDirection": "-",
          "startIntronOffset": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.74-2169T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.484+295T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1441,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1441,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "endIntronDirection": "-",
          "endIntronOffset": 2168,
          "referenceAllele": "T",
          "start": 1027,
          "startIntronDirection": "-",
          "startIntronOffset": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.913-2169T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.913-2169T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1442,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1280,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.969+295T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.969+295T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.969+295T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.969+295T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "T",
          "start": 1311,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.969+295T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.969+295T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}