{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259972",
  "communityStandardTitle": [
    "NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39992[alleleid]",
        "alleleId": 39992,
        "preferredName": "NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31035",
        "RCV": [
          "RCV000024029",
          "RCV001384574"
        ],
        "variationId": 31035
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36572414G>A?assembly=hg19",
        "id": "chr19:g.36572414G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36081512G>A?assembly=hg38",
        "id": "chr19:g.36081512G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907082",
        "rs": 387907082
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36081512-G-A?dataset=gnomad_r3",
        "id": "19-36081512-G-A",
        "variant": "19:36081512 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36081512-G-A?dataset=gnomad_r4",
        "id": "19-36081512-G-A",
        "variant": "19:36081512 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 36081512,
          "referenceAllele": "G",
          "start": 36081511
        }
      ],
      "hgvs": [
        "NC_000019.10:g.36081512G>A",
        "CM000681.2:g.36081512G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 36572414,
          "referenceAllele": "G",
          "start": 36572413
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36572414G>A",
        "CM000681.1:g.36572414G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41264254,
          "referenceAllele": "G",
          "start": 41264253
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41264254G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31632,
          "referenceAllele": "G",
          "start": 31631
        }
      ],
      "hgvs": [
        "NG_028101.1:g.31632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.12:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Arg438His",
        "hgvsWellDefined": "ENSP00000270301.6:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.7:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000384792.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.1313G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.1313G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Arg438His"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Arg438His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.6:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000465525.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000644764.2:c.*105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494253.2:n.*105G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679682.1:c.1298G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506226.1:p.Arg433His",
        "hgvsWellDefined": "ENSP00000506226.1:p.Arg433His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679714.1:c.1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506627.1:p.Arg436His",
        "hgvsWellDefined": "ENSP00000506627.1:p.Arg436His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679757.1:c.962G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505158.1:p.Arg321His",
        "hgvsWellDefined": "ENSP00000505158.1:p.Arg321His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679858.1:c.*110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505655.1:n.*110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680359.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506079.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000506079.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680403.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505677.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000505677.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1636,
          "referenceAllele": "G",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680489.1:n.1636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680564.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505582.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000505582.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680590.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505350.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000505350.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680806.1:c.*142G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506418.1:n.*142G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "referenceAllele": "G",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681625.1:c.1298G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505555.1:p.Arg433His",
        "hgvsWellDefined": "ENSP00000505555.1:p.Arg433His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.11:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Arg438His",
        "hgvsWellDefined": "ENSP00000270301.6:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.6:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000384792.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.5:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:p.Arg438His",
        "hgvsWellDefined": "ENSP00000465525.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Arg438His",
        "hgvsWellDefined": "NP_001077430.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105095",
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.4:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Arg438His",
        "hgvsWellDefined": "NP_775907.4:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_005258809.2:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258866.1:p.Arg438His",
        "hgvsWellDefined": "XP_005258866.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526837.1:c.1298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525139.1:p.Arg433His",
        "hgvsWellDefined": "XP_011525139.1:p.Arg433His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526838.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525140.1:p.Arg438His",
        "hgvsWellDefined": "XP_011525140.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526839.1:c.962G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525141.1:p.Arg321His",
        "hgvsWellDefined": "XP_011525141.1:p.Arg321His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.1:c.305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Arg102His",
        "hgvsWellDefined": "XP_011525142.1:p.Arg102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.2:c.305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Arg102His",
        "hgvsWellDefined": "XP_011525142.1:p.Arg102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_017026665.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882154.1:p.Arg438His",
        "hgvsWellDefined": "XP_016882154.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753671.1:n.1404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753672.1:n.1404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.2:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Arg438His",
        "hgvsWellDefined": "NP_001077430.1:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.1313G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.1313G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Arg438His"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Arg438His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA105095",
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.5:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Arg438His",
        "hgvsWellDefined": "NP_775907.4:p.Arg438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700622"
    }
  ],
  "type": "nucleotide"
}