{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1702661093",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3004G= (p.Val1002=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840765",
        "rs": 116840765
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1254178356",
        "rs": 1254178356
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41966069,
          "referenceAllele": "C",
          "start": 41966068
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966069C=",
        "CM000669.2:g.41966069C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 42005667,
          "referenceAllele": "C",
          "start": 42005666
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42005667C=",
        "CM000669.1:g.42005667C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41972192,
          "referenceAllele": "C",
          "start": 41972191
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972192C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275952,
          "referenceAllele": "G",
          "start": 275951
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275952G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3285,
          "referenceAllele": "G",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3004G="
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3004G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Val1002="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Val1002="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2961,
          "referenceAllele": "G",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2830G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Val944="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3103,
          "referenceAllele": "G",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3117,
          "referenceAllele": "G",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3089,
          "referenceAllele": "G",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2981,
          "referenceAllele": "G",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2981G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073460902",
      "coordinates": [
        {
          "allele": "G",
          "end": 3095,
          "referenceAllele": "G",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3133,
          "referenceAllele": "G",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "G",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3112,
          "referenceAllele": "G",
          "start": 3111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3165,
          "referenceAllele": "G",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2981,
          "referenceAllele": "G",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2827G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Val943="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5719,
          "referenceAllele": "G",
          "start": 5718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2827G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Val943="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5752,
          "referenceAllele": "G",
          "start": 5751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3001G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Val1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073460902",
      "coordinates": [
        {
          "allele": "G",
          "end": 3285,
          "referenceAllele": "G",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3004G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Val1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3004G="
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3004G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Val1002="
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Val1002="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}