{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340772",
  "communityStandardTitle": [
    "NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1300718",
        "active": true,
        "id": "COSM1300718"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23348[alleleid]",
        "alleleId": 23348,
        "preferredName": "NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8309",
        "RCV": [
          "RCV000008807",
          "RCV002262561",
          "RCV002512919"
        ],
        "variationId": 8309
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.61115580G>A?assembly=hg19",
        "id": "chr14:g.61115580G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.60648862G>A?assembly=hg38",
        "id": "chr14:g.60648862G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356459",
        "rs": 80356459
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 60648862,
          "referenceAllele": "G",
          "start": 60648861
        }
      ],
      "hgvs": [
        "NC_000014.9:g.60648862G>A",
        "CM000676.2:g.60648862G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 61115580,
          "referenceAllele": "G",
          "start": 61115579
        }
      ],
      "hgvs": [
        "NC_000014.8:g.61115580G>A",
        "CM000676.1:g.61115580G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 60185333,
          "referenceAllele": "G",
          "start": 60185332
        }
      ],
      "hgvs": [
        "NC_000014.7:g.60185333G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5576,
          "referenceAllele": "C",
          "start": 5575
        }
      ],
      "hgvs": [
        "NG_008231.1:g.5576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000963"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "ENST00000645694.3:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494686.1:p.Arg110Trp",
        "hgvsWellDefined": "ENSP00000494686.1:p.Arg110Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645694.3:c.328C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005982.4:c.328C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494686.1:p.Arg110Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005973.1:p.Arg110Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "ENST00000247182.6:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247182.5:p.Arg110Trp",
        "hgvsWellDefined": "ENSP00000247182.5:p.Arg110Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 2284,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "ENST00000553535.2:n.249-2285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 2284,
          "referenceAllele": "C",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "ENST00000554986.2:c.42-2285C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452700.2:n.42-2285C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "endIntronDirection": "-",
          "endIntronOffset": 2284,
          "referenceAllele": "C",
          "start": 1197,
          "startIntronDirection": "-",
          "startIntronOffset": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "ENST00000555955.3:n.1198-2285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106631",
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "NM_005982.3:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005973.1:p.Arg110Trp",
        "hgvsWellDefined": "NP_005973.1:p.Arg110Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "XM_017021602.2:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877091.1:p.Arg110Trp",
        "hgvsWellDefined": "XP_016877091.1:p.Arg110Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106631",
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "NM_005982.4:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005973.1:p.Arg110Trp",
        "hgvsWellDefined": "NP_005973.1:p.Arg110Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645694.3:c.328C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005982.4:c.328C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494686.1:p.Arg110Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005973.1:p.Arg110Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}