{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA205797",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3695A>C (p.His1232Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207478[alleleid]",
        "alleleId": 207478,
        "preferredName": "NM_000168.6(GLI3):c.3695A>C (p.His1232Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211083",
        "RCV": [
          "RCV000192754"
        ],
        "variationId": 211083
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-42004976-T-G",
        "id": "7-42004976-T-G",
        "variant": "7:42004976 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004976T>G?assembly=hg19",
        "id": "chr7:g.42004976T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41965378T>G?assembly=hg38",
        "id": "chr7:g.41965378T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780924905",
        "rs": 780924905
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42004976-T-G?dataset=gnomad_r2_1",
        "id": "7-42004976-T-G",
        "variant": "7:42004976 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41965378-T-G?dataset=gnomad_r4",
        "id": "7-41965378-T-G",
        "variant": "7:41965378 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41965378,
          "referenceAllele": "T",
          "start": 41965377
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41965378T>G",
        "CM000669.2:g.41965378T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 42004976,
          "referenceAllele": "T",
          "start": 42004975
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004976T>G",
        "CM000669.1:g.42004976T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 41971501,
          "referenceAllele": "T",
          "start": 41971500
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971501T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276643,
          "referenceAllele": "A",
          "start": 276642
        }
      ],
      "hgvs": [
        "NG_008434.1:g.276643A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3976,
          "referenceAllele": "A",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.His1232Pro",
        "hgvsWellDefined": "ENSP00000379258.3:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3695A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3695A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.His1232Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.His1232Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3652,
          "referenceAllele": "A",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.3521A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.His1174Pro",
        "hgvsWellDefined": "ENSP00000503986.1:p.His1174Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3794,
          "referenceAllele": "A",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.His1232Pro",
        "hgvsWellDefined": "ENSP00000503743.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3808,
          "referenceAllele": "A",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.His1232Pro",
        "hgvsWellDefined": "ENSP00000502957.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3780,
          "referenceAllele": "A",
          "start": 3779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.His1232Pro",
        "hgvsWellDefined": "ENSP00000379258.3:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3672,
          "referenceAllele": "A",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.3672A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA205798",
      "coordinates": [
        {
          "allele": "C",
          "end": 3786,
          "referenceAllele": "A",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.His1232Pro",
        "hgvsWellDefined": "NP_000159.3:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3824,
          "referenceAllele": "A",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.His1232Pro",
        "hgvsWellDefined": "XP_005249760.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4013,
          "referenceAllele": "A",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.His1232Pro",
        "hgvsWellDefined": "XP_005249761.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3803,
          "referenceAllele": "A",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.His1232Pro",
        "hgvsWellDefined": "XP_011513574.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3856,
          "referenceAllele": "A",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.His1232Pro",
        "hgvsWellDefined": "XP_011513575.1:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3672,
          "referenceAllele": "A",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3518A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.His1173Pro",
        "hgvsWellDefined": "XP_011513576.1:p.His1173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6410,
          "referenceAllele": "A",
          "start": 6409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3518A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.His1173Pro",
        "hgvsWellDefined": "XP_011513576.1:p.His1173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6443,
          "referenceAllele": "A",
          "start": 6442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3692A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.His1231Pro",
        "hgvsWellDefined": "XP_016867486.1:p.His1231Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA205798",
      "coordinates": [
        {
          "allele": "C",
          "end": 3976,
          "referenceAllele": "A",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3695A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.His1232Pro",
        "hgvsWellDefined": "NP_000159.3:p.His1232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3695A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3695A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.His1232Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.His1232Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}