{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118772",
  "communityStandardTitle": [
    "NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22442[alleleid]",
        "alleleId": 22442,
        "preferredName": "NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7403",
        "RCV": [
          "RCV000007828"
        ],
        "variationId": 7403
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38370155G>A?assembly=hg19",
        "id": "chr22:g.38370155G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37974148G>A?assembly=hg38",
        "id": "chr22:g.37974148G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315521",
        "rs": 74315521
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37974148-G-A?dataset=gnomad_r4",
        "id": "22-37974148-G-A",
        "variant": "22:37974148 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 37974148,
          "referenceAllele": "G",
          "start": 37974147
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37974148G>A",
        "CM000684.2:g.37974148G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 38370155,
          "referenceAllele": "G",
          "start": 38370154
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38370155G>A",
        "CM000684.1:g.38370155G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36700101,
          "referenceAllele": "G",
          "start": 36700100
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36700101G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15385,
          "referenceAllele": "C",
          "start": 15384
        }
      ],
      "hgvs": [
        "NG_007948.1:g.15385C>T",
        "LRG_271:g.15385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000716"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000698177.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513596.1:p.Gln322Ter",
        "hgvsWellDefined": "ENSP00000513596.1:p.Gln322_Pro538delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000690831.1:c.*370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510381.1:n.*370C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.8:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Gln250Ter",
        "hgvsWellDefined": "ENSP00000380093.2:p.Gln250_Pro466delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.748C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.748C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Gln250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Gln250Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "endIntronDirection": "-",
          "endIntronOffset": 3143,
          "referenceAllele": "C",
          "start": 165,
          "startIntronDirection": "-",
          "startIntronOffset": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000651746.1:c.166-3144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000360880.6:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354130.2:p.Gln250Ter",
        "hgvsWellDefined": "ENSP00000354130.2:p.Gln250_Pro466delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.6:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Gln250Ter",
        "hgvsWellDefined": "ENSP00000380093.2:p.Gln250_Pro466delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000405557.5:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384112.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000407936.5:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385725.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000443002.5:c.*38+1838G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406826.1:n.*38+1838G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000446929.5:c.378C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.1:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.1:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.3:c.748C>T",
        "LRG_271t1:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Gln250Ter",
        "hgvsWellDefined": "NP_008872.1:p.Gln250_Pro466delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "hgvs": [
        "XR_938243.1:n.158+1838G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001363825.1:c.*38+1838G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350754.1:n.*38+1838G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.2:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 6978,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.2:c.293+6978G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+6978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.4:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Gln250Ter",
        "hgvsWellDefined": "NP_008872.1:p.Gln250_Pro466delinsSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.748C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.748C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Gln250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Gln250Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}