{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1347587513",
  "communityStandardTitle": [
    "NM_005677.4(COLQ):c.718G= (p.Gly240=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893735",
        "rs": 104893735
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 15466437,
          "referenceAllele": "C",
          "start": 15466436
        }
      ],
      "hgvs": [
        "NC_000003.12:g.15466437C=",
        "CM000665.2:g.15466437C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 15507944,
          "referenceAllele": "C",
          "start": 15507943
        }
      ],
      "hgvs": [
        "NC_000003.11:g.15507944C=",
        "CM000665.1:g.15507944C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 15482948,
          "referenceAllele": "C",
          "start": 15482947
        }
      ],
      "hgvs": [
        "NC_000003.10:g.15482948C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60315,
          "referenceAllele": "G",
          "start": 60314
        }
      ],
      "hgvs": [
        "NG_009032.1:g.60315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60315,
          "referenceAllele": "G",
          "start": 60314
        }
      ],
      "hgvs": [
        "NG_009032.2:g.60315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673516"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000383788.10:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373298.3:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383788.10:c.718G="
          },
          "RefSeq": {
            "hgvs": "NM_005677.4:c.718G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373298.3:p.Gly240="
          },
          "RefSeq": {
            "hgvs": "NP_005668.2:p.Gly240="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000604401.2:n.714G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000679838.1:c.*480G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505708.1:n.*480G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000680545.1:n.484G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000681097.1:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505397.1:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000383781.8:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373291.3:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000383786.9:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373296.3:p.Gly206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000383788.9:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373298.3:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000603808.5:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474271.1:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "ENST00000605797.1:c.547G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474936.1:p.Gly183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384711",
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_005677.3:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005668.2:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_080538.2:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "NP_536799.1:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_080539.3:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "NP_536800.2:p.Gly206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384711",
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_005677.4:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005668.2:p.Gly240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383788.10:c.718G="
          },
          "RefSeq": {
            "hgvs": "NM_005677.4:c.718G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373298.3:p.Gly240="
          },
          "RefSeq": {
            "hgvs": "NP_005668.2:p.Gly240="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_080539.4:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "NP_536800.2:p.Gly206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699512"
    }
  ],
  "type": "nucleotide"
}