{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356113309",
  "communityStandardTitle": [
    "NM_173660.5(DOK7):c.190G>A (p.Gly64Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2412284[alleleid]",
        "alleleId": 2412284,
        "preferredName": "NM_173660.5(DOK7):c.190G>A (p.Gly64Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2440997",
        "RCV": [
          "RCV003146826"
        ],
        "variationId": 2440997
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3475222G>A?assembly=hg19",
        "id": "chr4:g.3475222G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3473495G>A?assembly=hg38",
        "id": "chr4:g.3473495G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1246160310",
        "rs": 1246160310
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3475222-G-A?dataset=gnomad_r2_1",
        "id": "4-3475222-G-A",
        "variant": "4:3475222 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3473495-G-A?dataset=gnomad_r3",
        "id": "4-3473495-G-A",
        "variant": "4:3473495 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3473495-G-A?dataset=gnomad_r4",
        "id": "4-3473495-G-A",
        "variant": "4:3473495 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3473495,
          "referenceAllele": "G",
          "start": 3473494
        }
      ],
      "hgvs": [
        "NC_000004.12:g.3473495G>A",
        "CM000666.2:g.3473495G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3475222,
          "referenceAllele": "G",
          "start": 3475221
        }
      ],
      "hgvs": [
        "NC_000004.11:g.3475222G>A",
        "CM000666.1:g.3475222G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3445020,
          "referenceAllele": "G",
          "start": 3445019
        }
      ],
      "hgvs": [
        "NC_000004.10:g.3445020G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15190,
          "referenceAllele": "G",
          "start": 15189
        }
      ],
      "hgvs": [
        "NG_013072.2:g.15190G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002701"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.6:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:p.Gly64Arg",
        "hgvsWellDefined": "ENSP00000344432.5:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.190G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.190G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Gly64Arg"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Gly64Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 9944,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 9943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000643608.1:c.100+9944G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495701.1:n.100+9944G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.5:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:p.Gly64Arg",
        "hgvsWellDefined": "ENSP00000344432.5:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 9944,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 9943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000503688.5:n.165+9944G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000507039.5:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423614.1:p.Gly64Arg",
        "hgvsWellDefined": "ENSP00000423614.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000511267.5:n.209G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999322",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.1:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:p.Gly64Arg",
        "hgvsWellDefined": "NP_001158145.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826861883",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.1:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Gly64Arg",
        "hgvsWellDefined": "NP_001288000.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580542157",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.4:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Gly64Arg",
        "hgvsWellDefined": "NP_775931.3:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.1:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Gly64Arg",
        "hgvsWellDefined": "XP_011511737.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513436.1:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511738.1:p.Gly64Arg",
        "hgvsWellDefined": "XP_011511738.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.1:c.-214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:n.-214G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 9944,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 9943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.1:c.100+9944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.100+9944G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.2:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Gly64Arg",
        "hgvsWellDefined": "XP_011511737.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.2:c.-214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:n.-214G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580542157",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.5:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Gly64Arg",
        "hgvsWellDefined": "NP_775931.3:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.190G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.190G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Gly64Arg"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Gly64Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999322",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:p.Gly64Arg",
        "hgvsWellDefined": "NP_001158145.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826861883",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.190G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Gly64Arg",
        "hgvsWellDefined": "NP_001288000.1:p.Gly64Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 9944,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 9943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.100+9944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.100+9944G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    }
  ],
  "type": "nucleotide"
}