{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4230275",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3756G>A (p.Pro1252=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587189[alleleid]",
        "alleleId": 587189,
        "preferredName": "NM_000168.6(GLI3):c.3756G>A (p.Pro1252=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596128",
        "RCV": [
          "RCV000731850",
          "RCV003768216"
        ],
        "variationId": 596128
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-42004915-C-T",
        "id": "7-42004915-C-T",
        "variant": "7:42004915 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004915C>T?assembly=hg19",
        "id": "chr7:g.42004915C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41965317C>T?assembly=hg38",
        "id": "chr7:g.41965317C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758155716",
        "rs": 758155716
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42004915-C-T?dataset=gnomad_r2_1",
        "id": "7-42004915-C-T",
        "variant": "7:42004915 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41965317-C-T?dataset=gnomad_r3",
        "id": "7-41965317-C-T",
        "variant": "7:41965317 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41965317-C-T?dataset=gnomad_r4",
        "id": "7-41965317-C-T",
        "variant": "7:41965317 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41965317,
          "referenceAllele": "C",
          "start": 41965316
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41965317C>T",
        "CM000669.2:g.41965317C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 42004915,
          "referenceAllele": "C",
          "start": 42004914
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004915C>T",
        "CM000669.1:g.42004915C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41971440,
          "referenceAllele": "C",
          "start": 41971439
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971440C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276704,
          "referenceAllele": "G",
          "start": 276703
        }
      ],
      "hgvs": [
        "NG_008434.1:g.276704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3756G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3756G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro1252="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro1252="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.3582G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Pro1194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3855,
          "referenceAllele": "G",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "G",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3841,
          "referenceAllele": "G",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3733,
          "referenceAllele": "G",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.3733G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079589",
      "coordinates": [
        {
          "allele": "A",
          "end": 3847,
          "referenceAllele": "G",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3885,
          "referenceAllele": "G",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4074,
          "referenceAllele": "G",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3864,
          "referenceAllele": "G",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "referenceAllele": "G",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3733,
          "referenceAllele": "G",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3579G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6471,
          "referenceAllele": "G",
          "start": 6470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3579G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6504,
          "referenceAllele": "G",
          "start": 6503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Pro1251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825079589",
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3756G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3756G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3756G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro1252="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro1252="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}