{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157219006",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3090817[alleleid]",
        "alleleId": 3090817,
        "preferredName": "NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2928660",
        "RCV": [
          "RCV003789434"
        ],
        "variationId": 2928660
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42116361G>A?assembly=hg19",
        "id": "chr7:g.42116361G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42076762G>A?assembly=hg38",
        "id": "chr7:g.42076762G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/868656005",
        "rs": 868656005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42116361-G-A?dataset=gnomad_r2_1",
        "id": "7-42116361-G-A",
        "variant": "7:42116361 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42076762-G-A?dataset=gnomad_r3",
        "id": "7-42076762-G-A",
        "variant": "7:42076762 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42076762-G-A?dataset=gnomad_r4",
        "id": "7-42076762-G-A",
        "variant": "7:42076762 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42076762,
          "referenceAllele": "G",
          "start": 42076761
        }
      ],
      "hgvs": [
        "NC_000007.14:g.42076762G>A",
        "CM000669.2:g.42076762G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42116361,
          "referenceAllele": "G",
          "start": 42116360
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42116361G>A",
        "CM000669.1:g.42116361G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42082886,
          "referenceAllele": "G",
          "start": 42082885
        }
      ],
      "hgvs": [
        "NC_000007.12:g.42082886G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165258,
          "referenceAllele": "C",
          "start": 165257
        }
      ],
      "hgvs": [
        "NG_008434.1:g.165258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000379258.3:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro155Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro155Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Pro96Ser",
        "hgvsWellDefined": "ENSP00000503986.1:p.Pro96Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000503743.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000502957.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000379258.3:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000448703.5:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406135.1:p.Pro155Ser",
        "hgvsWellDefined": "ENSP00000406135.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811777",
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro155Ser",
        "hgvsWellDefined": "NP_000159.3:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Pro155Ser",
        "hgvsWellDefined": "XP_005249760.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Pro155Ser",
        "hgvsWellDefined": "XP_005249761.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Pro155Ser",
        "hgvsWellDefined": "XP_011513574.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Pro155Ser",
        "hgvsWellDefined": "XP_011513575.1:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro96Ser",
        "hgvsWellDefined": "XP_011513576.1:p.Pro96Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro96Ser",
        "hgvsWellDefined": "XP_011513576.1:p.Pro96Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Pro154Ser",
        "hgvsWellDefined": "XP_016867486.1:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811777",
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro155Ser",
        "hgvsWellDefined": "NP_000159.3:p.Pro155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro155Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro155Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}