{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367317638",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3631G>C (p.Gly1211Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42005040C>G?assembly=hg19",
        "id": "chr7:g.42005040C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41965442C>G?assembly=hg38",
        "id": "chr7:g.41965442C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41965442,
          "referenceAllele": "C",
          "start": 41965441
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41965442C>G",
        "CM000669.2:g.41965442C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42005040,
          "referenceAllele": "C",
          "start": 42005039
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42005040C>G",
        "CM000669.1:g.42005040C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41971565,
          "referenceAllele": "C",
          "start": 41971564
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971565C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276579,
          "referenceAllele": "G",
          "start": 276578
        }
      ],
      "hgvs": [
        "NG_008434.1:g.276579G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3912,
          "referenceAllele": "G",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gly1211Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3631G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3631G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gly1211Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gly1211Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.3457G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Gly1153Arg",
        "hgvsWellDefined": "ENSP00000503986.1:p.Gly1153Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3730,
          "referenceAllele": "G",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Gly1211Arg",
        "hgvsWellDefined": "ENSP00000503743.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3744,
          "referenceAllele": "G",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Gly1211Arg",
        "hgvsWellDefined": "ENSP00000502957.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3716,
          "referenceAllele": "G",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gly1211Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3608,
          "referenceAllele": "G",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.3608G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474054",
      "coordinates": [
        {
          "allele": "C",
          "end": 3722,
          "referenceAllele": "G",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gly1211Arg",
        "hgvsWellDefined": "NP_000159.3:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3760,
          "referenceAllele": "G",
          "start": 3759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Gly1211Arg",
        "hgvsWellDefined": "XP_005249760.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3949,
          "referenceAllele": "G",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Gly1211Arg",
        "hgvsWellDefined": "XP_005249761.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Gly1211Arg",
        "hgvsWellDefined": "XP_011513574.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3792,
          "referenceAllele": "G",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Gly1211Arg",
        "hgvsWellDefined": "XP_011513575.1:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3608,
          "referenceAllele": "G",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gly1152Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Gly1152Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6346,
          "referenceAllele": "G",
          "start": 6345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gly1152Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Gly1152Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6379,
          "referenceAllele": "G",
          "start": 6378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3628G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Gly1210Arg",
        "hgvsWellDefined": "XP_016867486.1:p.Gly1210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474054",
      "coordinates": [
        {
          "allele": "C",
          "end": 3912,
          "referenceAllele": "G",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3631G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gly1211Arg",
        "hgvsWellDefined": "NP_000159.3:p.Gly1211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3631G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3631G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gly1211Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gly1211Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}