{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1702647773",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2023G= (p.Glu675=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840744",
        "rs": 116840744
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1787388692",
        "rs": 1787388692
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41972417,
          "referenceAllele": "C",
          "start": 41972416
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41972417C=",
        "CM000669.2:g.41972417C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 42012016,
          "referenceAllele": "C",
          "start": 42012015
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42012016C=",
        "CM000669.1:g.42012016C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41978541,
          "referenceAllele": "C",
          "start": 41978540
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41978541C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269603,
          "referenceAllele": "G",
          "start": 269602
        }
      ],
      "hgvs": [
        "NG_008434.1:g.269603G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2023G="
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2023G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Glu675="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Glu675="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1849G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Glu617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2108,
          "referenceAllele": "G",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2000G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073460888",
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2152,
          "referenceAllele": "G",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2184,
          "referenceAllele": "G",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1846G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Glu616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4738,
          "referenceAllele": "G",
          "start": 4737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1846G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Glu616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4771,
          "referenceAllele": "G",
          "start": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2020G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Glu674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073460888",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2023G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Glu675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2023G="
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2023G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Glu675="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Glu675="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}