{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367322689",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1405235[alleleid]",
        "alleleId": 1405235,
        "preferredName": "NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1377307",
        "RCV": [
          "RCV001888445"
        ],
        "variationId": 1377307
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42012174C>T?assembly=hg19",
        "id": "chr7:g.42012174C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41972575C>T?assembly=hg38",
        "id": "chr7:g.41972575C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128710024",
        "rs": 2128710024
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41972575,
          "referenceAllele": "C",
          "start": 41972574
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41972575C>T",
        "CM000669.2:g.41972575C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 42012174,
          "referenceAllele": "C",
          "start": 42012173
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42012174C>T",
        "CM000669.1:g.42012174C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41978699,
          "referenceAllele": "C",
          "start": 41978698
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41978699C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269445,
          "referenceAllele": "G",
          "start": 269444
        }
      ],
      "hgvs": [
        "NG_008434.1:g.269445G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser622Asn",
        "hgvsWellDefined": "ENSP00000379258.3:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1865G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1865G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser622Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser622Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Ser564Asn",
        "hgvsWellDefined": "ENSP00000503986.1:p.Ser564Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "referenceAllele": "G",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Ser622Asn",
        "hgvsWellDefined": "ENSP00000503743.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Ser622Asn",
        "hgvsWellDefined": "ENSP00000502957.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser622Asn",
        "hgvsWellDefined": "ENSP00000379258.3:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000464291.1:n.418G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1842,
          "referenceAllele": "G",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.1842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163311",
      "coordinates": [
        {
          "allele": "A",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser622Asn",
        "hgvsWellDefined": "NP_000159.3:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Ser622Asn",
        "hgvsWellDefined": "XP_005249760.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Ser622Asn",
        "hgvsWellDefined": "XP_005249761.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Ser622Asn",
        "hgvsWellDefined": "XP_011513574.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Ser622Asn",
        "hgvsWellDefined": "XP_011513575.1:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1842,
          "referenceAllele": "G",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1688G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser563Asn",
        "hgvsWellDefined": "XP_011513576.1:p.Ser563Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4580,
          "referenceAllele": "G",
          "start": 4579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1688G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser563Asn",
        "hgvsWellDefined": "XP_011513576.1:p.Ser563Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4613,
          "referenceAllele": "G",
          "start": 4612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Ser621Asn",
        "hgvsWellDefined": "XP_016867486.1:p.Ser621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163311",
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.1865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser622Asn",
        "hgvsWellDefined": "NP_000159.3:p.Ser622Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1865G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1865G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser622Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser622Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}