{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14540244",
  "communityStandardTitle": [
    "NM_152721.6(DOK6):c.289+16407A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.67283141A>G?assembly=hg19",
        "id": "chr18:g.67283141A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.69615905A>G?assembly=hg38",
        "id": "chr18:g.69615905A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10513968",
        "rs": 10513968
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-67283141-A-G?dataset=gnomad_r2_1",
        "id": "18-67283141-A-G",
        "variant": "18:67283141 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-69615905-A-G?dataset=gnomad_r3",
        "id": "18-69615905-A-G",
        "variant": "18:69615905 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-69615905-A-G?dataset=gnomad_r4",
        "id": "18-69615905-A-G",
        "variant": "18:69615905 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 69615905,
          "referenceAllele": "A",
          "start": 69615904
        }
      ],
      "hgvs": [
        "NC_000018.10:g.69615905A>G",
        "CM000680.2:g.69615905A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 67283141,
          "referenceAllele": "A",
          "start": 67283140
        }
      ],
      "hgvs": [
        "NC_000018.9:g.67283141A>G",
        "CM000680.1:g.67283141A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 65434121,
          "referenceAllele": "A",
          "start": 65434120
        }
      ],
      "hgvs": [
        "NC_000018.8:g.65434121A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "ENST00000382713.10:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372160.5:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382713.10:c.289+16407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_152721.6:c.289+16407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372160.5:n.289+16407A>G"
          },
          "RefSeq": {
            "hgvs": "NP_689934.2:n.289+16407A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "ENST00000382713.9:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372160.5:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "NM_152721.5:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689934.2:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "XM_011525873.1:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524175.1:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "XM_011525874.1:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524176.1:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "XM_011525875.1:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524177.1:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "XM_011525875.2:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524177.1:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 16407,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 16406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028301",
      "geneNCBI_id": 220164,
      "geneSymbol": "DOK6",
      "hgvs": [
        "NM_152721.6:c.289+16407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689934.2:n.289+16407A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382713.10:c.289+16407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_152721.6:c.289+16407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372160.5:n.289+16407A>G"
          },
          "RefSeq": {
            "hgvs": "NP_689934.2:n.289+16407A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}