{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367323859",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.1460G>C (p.Cys487Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42063104C>G?assembly=hg19",
        "id": "chr7:g.42063104C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42023505C>G?assembly=hg38",
        "id": "chr7:g.42023505C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42023505,
          "referenceAllele": "C",
          "start": 42023504
        }
      ],
      "hgvs": [
        "NC_000007.14:g.42023505C>G",
        "CM000669.2:g.42023505C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42063104,
          "referenceAllele": "C",
          "start": 42063103
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42063104C>G",
        "CM000669.1:g.42063104C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42029629,
          "referenceAllele": "C",
          "start": 42029628
        }
      ],
      "hgvs": [
        "NC_000007.12:g.42029629C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218515,
          "referenceAllele": "G",
          "start": 218514
        }
      ],
      "hgvs": [
        "NG_008434.1:g.218515G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "G",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Cys487Ser",
        "hgvsWellDefined": "ENSP00000379258.3:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1460G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1460G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Cys487Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Cys487Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1286G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Cys429Ser",
        "hgvsWellDefined": "ENSP00000503986.1:p.Cys429Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Cys487Ser",
        "hgvsWellDefined": "ENSP00000503743.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Cys487Ser",
        "hgvsWellDefined": "ENSP00000502957.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1545,
          "referenceAllele": "G",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Cys487Ser",
        "hgvsWellDefined": "ENSP00000379258.3:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.1437G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580105159",
      "coordinates": [
        {
          "allele": "C",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Cys487Ser",
        "hgvsWellDefined": "NP_000159.3:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Cys487Ser",
        "hgvsWellDefined": "XP_005249760.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Cys487Ser",
        "hgvsWellDefined": "XP_005249761.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Cys487Ser",
        "hgvsWellDefined": "XP_011513574.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Cys487Ser",
        "hgvsWellDefined": "XP_011513575.1:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1437,
          "referenceAllele": "G",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1283G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Cys428Ser",
        "hgvsWellDefined": "XP_011513576.1:p.Cys428Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4175,
          "referenceAllele": "G",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1283G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Cys428Ser",
        "hgvsWellDefined": "XP_011513576.1:p.Cys428Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4208,
          "referenceAllele": "G",
          "start": 4207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.1457G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Cys486Ser",
        "hgvsWellDefined": "XP_016867486.1:p.Cys486Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580105159",
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "G",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.1460G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Cys487Ser",
        "hgvsWellDefined": "NP_000159.3:p.Cys487Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1460G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1460G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Cys487Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Cys487Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}