{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2404602200",
  "communityStandardTitle": [
    "NM_006941.4(SOX10):c.939C= (p.Tyr313=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315516",
        "rs": 74315516
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 37973957,
          "referenceAllele": "G",
          "start": 37973956
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37973957G=",
        "CM000684.2:g.37973957G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 38369964,
          "referenceAllele": "G",
          "start": 38369963
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38369964G=",
        "CM000684.1:g.38369964G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 36699910,
          "referenceAllele": "G",
          "start": 36699909
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36699910G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15576,
          "referenceAllele": "C",
          "start": 15575
        }
      ],
      "hgvs": [
        "NG_007948.1:g.15576C=",
        "LRG_271:g.15576C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000716"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000698177.1:c.1155C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513596.1:p.Tyr385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000690831.1:c.*561C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510381.1:n.*561C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.8:c.939C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Tyr313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.939C="
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.939C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Tyr313="
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Tyr313="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 165,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "C",
          "start": 165,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000651746.1:c.166-2953C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000360880.6:c.939C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354130.2:p.Tyr313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.6:c.939C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Tyr313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000405557.5:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384112.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000407936.5:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385725.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 1647,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000443002.5:c.*38+1647G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406826.1:n.*38+1647G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 87,
          "referenceAllele": "C",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000446929.5:c.482+87C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.1:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.1:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578938",
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.3:c.939C=",
        "LRG_271t1:c.939C="
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Tyr313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 1647,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 1646
        }
      ],
      "hgvs": [
        "XR_938243.1:n.158+1647G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 1647,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001363825.1:c.*38+1647G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350754.1:n.*38+1647G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.2:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 6787,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 6786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.2:c.293+6787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+6787G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578938",
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.4:c.939C="
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Tyr313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.939C="
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.939C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Tyr313="
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Tyr313="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}