{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367316360",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3823G>C (p.Gly1275Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004848C>G?assembly=hg19",
        "id": "chr7:g.42004848C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41965250C>G?assembly=hg38",
        "id": "chr7:g.41965250C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41965250,
          "referenceAllele": "C",
          "start": 41965249
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41965250C>G",
        "CM000669.2:g.41965250C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42004848,
          "referenceAllele": "C",
          "start": 42004847
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004848C>G",
        "CM000669.1:g.42004848C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41971373,
          "referenceAllele": "C",
          "start": 41971372
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971373C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276771,
          "referenceAllele": "G",
          "start": 276770
        }
      ],
      "hgvs": [
        "NG_008434.1:g.276771G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4104,
          "referenceAllele": "G",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gly1275Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3823G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3823G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gly1275Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gly1275Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3780,
          "referenceAllele": "G",
          "start": 3779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.3649G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Gly1217Arg",
        "hgvsWellDefined": "ENSP00000503986.1:p.Gly1217Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3922,
          "referenceAllele": "G",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Gly1275Arg",
        "hgvsWellDefined": "ENSP00000503743.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "G",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Gly1275Arg",
        "hgvsWellDefined": "ENSP00000502957.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gly1275Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.3800G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673532",
      "coordinates": [
        {
          "allele": "C",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gly1275Arg",
        "hgvsWellDefined": "NP_000159.3:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Gly1275Arg",
        "hgvsWellDefined": "XP_005249760.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4141,
          "referenceAllele": "G",
          "start": 4140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Gly1275Arg",
        "hgvsWellDefined": "XP_005249761.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3931,
          "referenceAllele": "G",
          "start": 3930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Gly1275Arg",
        "hgvsWellDefined": "XP_011513574.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3984,
          "referenceAllele": "G",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Gly1275Arg",
        "hgvsWellDefined": "XP_011513575.1:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3646G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gly1216Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Gly1216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6538,
          "referenceAllele": "G",
          "start": 6537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3646G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gly1216Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Gly1216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6571,
          "referenceAllele": "G",
          "start": 6570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3820G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Gly1274Arg",
        "hgvsWellDefined": "XP_016867486.1:p.Gly1274Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673532",
      "coordinates": [
        {
          "allele": "C",
          "end": 4104,
          "referenceAllele": "G",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3823G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gly1275Arg",
        "hgvsWellDefined": "NP_000159.3:p.Gly1275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3823G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3823G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gly1275Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gly1275Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}