{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA454525124",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2163C>T (p.Ser721=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2403952[alleleid]",
        "alleleId": 2403952,
        "preferredName": "NM_000168.6(GLI3):c.2163C>T (p.Ser721=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2430445",
        "RCV": [
          "RCV003129017",
          "RCV003778684"
        ],
        "variationId": 2430445
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42007462G>A?assembly=hg19",
        "id": "chr7:g.42007462G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41967864G>A?assembly=hg38",
        "id": "chr7:g.41967864G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1398108964",
        "rs": 1398108964
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42007462-G-A?dataset=gnomad_r2_1",
        "id": "7-42007462-G-A",
        "variant": "7:42007462 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41967864-G-A?dataset=gnomad_r4",
        "id": "7-41967864-G-A",
        "variant": "7:41967864 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41967864,
          "referenceAllele": "G",
          "start": 41967863
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41967864G>A",
        "CM000669.2:g.41967864G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42007462,
          "referenceAllele": "G",
          "start": 42007461
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42007462G>A",
        "CM000669.1:g.42007462G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41973987,
          "referenceAllele": "G",
          "start": 41973986
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41973987G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274157,
          "referenceAllele": "C",
          "start": 274156
        }
      ],
      "hgvs": [
        "NG_008434.1:g.274157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "C",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser721="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser721="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "referenceAllele": "C",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1989C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Ser663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "C",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2248,
          "referenceAllele": "C",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "C",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2140C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079183",
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2481,
          "referenceAllele": "C",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "referenceAllele": "C",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "referenceAllele": "C",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "C",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4878,
          "referenceAllele": "C",
          "start": 4877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4911,
          "referenceAllele": "C",
          "start": 4910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Ser720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079183",
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "C",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser721="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser721="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}