{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4230484",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=821942[alleleid]",
        "alleleId": 821942,
        "preferredName": "NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/833690",
        "RCV": [
          "RCV001034167"
        ],
        "variationId": 833690
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-42005690-G-C",
        "id": "7-42005690-G-C",
        "variant": "7:42005690 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42005690G>C?assembly=hg19",
        "id": "chr7:g.42005690G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41966092G>C?assembly=hg38",
        "id": "chr7:g.41966092G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772285708",
        "rs": 772285708
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42005690-G-C?dataset=gnomad_r2_1",
        "id": "7-42005690-G-C",
        "variant": "7:42005690 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41966092-G-C?dataset=gnomad_r3",
        "id": "7-41966092-G-C",
        "variant": "7:41966092 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41966092-G-C?dataset=gnomad_r4",
        "id": "7-41966092-G-C",
        "variant": "7:41966092 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41966092,
          "referenceAllele": "G",
          "start": 41966091
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966092G>C",
        "CM000669.2:g.41966092G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 42005690,
          "referenceAllele": "G",
          "start": 42005689
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42005690G>C",
        "CM000669.1:g.42005690G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41972215,
          "referenceAllele": "G",
          "start": 41972214
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972215G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275929,
          "referenceAllele": "C",
          "start": 275928
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275929C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3262,
          "referenceAllele": "C",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro994Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2981C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2981C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro994Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro994Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2807C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Pro936Arg",
        "hgvsWellDefined": "ENSP00000503986.1:p.Pro936Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3080,
          "referenceAllele": "C",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Pro994Arg",
        "hgvsWellDefined": "ENSP00000503743.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3094,
          "referenceAllele": "C",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Pro994Arg",
        "hgvsWellDefined": "ENSP00000502957.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro994Arg",
        "hgvsWellDefined": "ENSP00000379258.3:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2958,
          "referenceAllele": "C",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2958C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668717",
      "coordinates": [
        {
          "allele": "G",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro994Arg",
        "hgvsWellDefined": "NP_000159.3:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Pro994Arg",
        "hgvsWellDefined": "XP_005249760.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3299,
          "referenceAllele": "C",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Pro994Arg",
        "hgvsWellDefined": "XP_005249761.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3089,
          "referenceAllele": "C",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Pro994Arg",
        "hgvsWellDefined": "XP_011513574.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3142,
          "referenceAllele": "C",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Pro994Arg",
        "hgvsWellDefined": "XP_011513575.1:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2958,
          "referenceAllele": "C",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2804C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro935Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Pro935Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5696,
          "referenceAllele": "C",
          "start": 5695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2804C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro935Arg",
        "hgvsWellDefined": "XP_011513576.1:p.Pro935Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5729,
          "referenceAllele": "C",
          "start": 5728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2978C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Pro993Arg",
        "hgvsWellDefined": "XP_016867486.1:p.Pro993Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668717",
      "coordinates": [
        {
          "allele": "G",
          "end": 3262,
          "referenceAllele": "C",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2981C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro994Arg",
        "hgvsWellDefined": "NP_000159.3:p.Pro994Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2981C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2981C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro994Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro994Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}