{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059451054",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.969+194A>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1874859510",
        "rs": 1874859510
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102846701,
          "referenceAllele": "T",
          "start": 102846700
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102846701T>C",
        "CM000674.2:g.102846701T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103240479,
          "referenceAllele": "T",
          "start": 103240478
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103240479T>C",
        "CM000674.1:g.103240479T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101764609,
          "referenceAllele": "T",
          "start": 101764608
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101764609T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75902,
          "referenceAllele": "A",
          "start": 75901
        }
      ],
      "hgvs": [
        "NG_008690.1:g.75902A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116710,
          "referenceAllele": "A",
          "start": 116709
        }
      ],
      "hgvs": [
        "NG_008690.2:g.116710A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.969+194A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.969+194A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.969+194A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.969+194A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1225,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1225,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.954+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.954+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.728+194A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.631+194A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1442,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "A",
          "start": 73,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.74-2270A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.484+194A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1441,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1441,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "A",
          "start": 1027,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.913-2270A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.913-2270A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1442,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1280,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.969+194A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.969+194A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.969+194A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.969+194A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1311,
          "endIntronDirection": "+",
          "endIntronOffset": 194,
          "referenceAllele": "A",
          "start": 1311,
          "startIntronDirection": "+",
          "startIntronOffset": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.969+194A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.969+194A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}