{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256982",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1450731",
        "active": true,
        "id": "COSM1450731"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28863[alleleid]",
        "alleleId": 28863,
        "preferredName": "NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13824",
        "RCV": [
          "RCV000014835"
        ],
        "variationId": 13824
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42012166G>A?assembly=hg19",
        "id": "chr7:g.42012166G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41972567G>A?assembly=hg38",
        "id": "chr7:g.41972567G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917712",
        "rs": 121917712
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41972567,
          "referenceAllele": "G",
          "start": 41972566
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41972567G>A",
        "CM000669.2:g.41972567G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42012166,
          "referenceAllele": "G",
          "start": 42012165
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42012166G>A",
        "CM000669.1:g.42012166G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41978691,
          "referenceAllele": "G",
          "start": 41978690
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41978691G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269453,
          "referenceAllele": "C",
          "start": 269452
        }
      ],
      "hgvs": [
        "NG_008434.1:g.269453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg625Trp",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1873C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1873C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg625Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg625Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1699C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Arg567Trp",
        "hgvsWellDefined": "ENSP00000503986.1:p.Arg567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Arg625Trp",
        "hgvsWellDefined": "ENSP00000503743.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1986,
          "referenceAllele": "C",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Arg625Trp",
        "hgvsWellDefined": "ENSP00000502957.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "C",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg625Trp",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000464291.1:n.426C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.1850C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099094",
      "coordinates": [
        {
          "allele": "T",
          "end": 1964,
          "referenceAllele": "C",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg625Trp",
        "hgvsWellDefined": "NP_000159.3:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Arg625Trp",
        "hgvsWellDefined": "XP_005249760.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Arg625Trp",
        "hgvsWellDefined": "XP_005249761.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1981,
          "referenceAllele": "C",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Arg625Trp",
        "hgvsWellDefined": "XP_011513574.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Arg625Trp",
        "hgvsWellDefined": "XP_011513575.1:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg566Trp",
        "hgvsWellDefined": "XP_011513576.1:p.Arg566Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4588,
          "referenceAllele": "C",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg566Trp",
        "hgvsWellDefined": "XP_011513576.1:p.Arg566Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4621,
          "referenceAllele": "C",
          "start": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Arg624Trp",
        "hgvsWellDefined": "XP_016867486.1:p.Arg624Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099094",
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.1873C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg625Trp",
        "hgvsWellDefined": "NP_000159.3:p.Arg625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1873C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1873C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg625Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg625Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}