{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA151410",
  "communityStandardTitle": [
    "NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132655[alleleid]",
        "alleleId": 132655,
        "preferredName": "NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127157",
        "RCV": [
          "RCV000115013",
          "RCV000788500",
          "RCV001281118",
          "RCV001854544",
          "RCV002477273"
        ],
        "variationId": 127157
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-39276565-G-A",
        "id": "4-39276565-G-A",
        "variant": "4:39276565 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.39276565G>A?assembly=hg19",
        "id": "chr4:g.39276565G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.39274945G>A?assembly=hg38",
        "id": "chr4:g.39274945G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777351",
        "rs": 587777351
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39276565-G-A?dataset=gnomad_r2_1",
        "id": "4-39276565-G-A",
        "variant": "4:39276565 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39274945-G-A?dataset=gnomad_r3",
        "id": "4-39274945-G-A",
        "variant": "4:39274945 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39274945-G-A?dataset=gnomad_r4",
        "id": "4-39274945-G-A",
        "variant": "4:39274945 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 39274945,
          "referenceAllele": "G",
          "start": 39274944
        }
      ],
      "hgvs": [
        "NC_000004.12:g.39274945G>A",
        "CM000666.2:g.39274945G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 39276565,
          "referenceAllele": "G",
          "start": 39276564
        }
      ],
      "hgvs": [
        "NC_000004.11:g.39276565G>A",
        "CM000666.1:g.39276565G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 38952960,
          "referenceAllele": "G",
          "start": 38952959
        }
      ],
      "hgvs": [
        "NC_000004.10:g.38952960G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97542,
          "referenceAllele": "G",
          "start": 97541
        }
      ],
      "hgvs": [
        "NG_031813.1:g.97542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004976"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "referenceAllele": "G",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "ENST00000399820.8:c.3703G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382717.3:p.Glu1235Lys",
        "hgvsWellDefined": "ENSP00000382717.3:p.Glu1235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399820.8:c.3703G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025132.4:c.3703G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382717.3:p.Glu1235Lys"
          },
          "RefSeq": {
            "hgvs": "NP_079408.3:p.Glu1235Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "ENST00000399820.7:c.3703G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382717.3:p.Glu1235Lys",
        "hgvsWellDefined": "ENSP00000382717.3:p.Glu1235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "ENST00000506869.5:c.*3284G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424319.1:n.*3284G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2701,
          "referenceAllele": "G",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "ENST00000512095.5:n.2701G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "ENST00000512534.5:n.2014G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NM_025132.3:c.3703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079408.3:p.Glu1235Lys",
        "hgvsWellDefined": "NP_079408.3:p.Glu1235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513724.1:c.3715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512026.1:p.Glu1239Lys",
        "hgvsWellDefined": "XP_011512026.1:p.Glu1239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4018,
          "referenceAllele": "G",
          "start": 4017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513725.1:c.3649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512027.1:p.Glu1217Lys",
        "hgvsWellDefined": "XP_011512027.1:p.Glu1217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3623,
          "referenceAllele": "G",
          "start": 3622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513726.1:c.3235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512028.1:p.Glu1079Lys",
        "hgvsWellDefined": "XP_011512028.1:p.Glu1079Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513727.1:c.3235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512029.1:p.Glu1079Lys",
        "hgvsWellDefined": "XP_011512029.1:p.Glu1079Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3611,
          "referenceAllele": "G",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513728.1:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512030.1:p.Glu1075Lys",
        "hgvsWellDefined": "XP_011512030.1:p.Glu1075Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5413,
          "referenceAllele": "G",
          "start": 5412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_925155.1:n.5413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972929",
      "coordinates": [
        {
          "allele": "A",
          "end": 3741,
          "referenceAllele": "G",
          "start": 3740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NM_001317924.1:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304853.1:p.Glu1075Lys",
        "hgvsWellDefined": "NP_001304853.1:p.Glu1075Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3734,
          "referenceAllele": "G",
          "start": 3733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513725.2:c.3649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512027.1:p.Glu1217Lys",
        "hgvsWellDefined": "XP_011512027.1:p.Glu1217Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3628,
          "referenceAllele": "G",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_011513726.3:c.3235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512028.1:p.Glu1079Lys",
        "hgvsWellDefined": "XP_011512028.1:p.Glu1079Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XM_017008501.1:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863990.1:p.Glu1075Lys",
        "hgvsWellDefined": "XP_016863990.1:p.Glu1075Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741306.1:n.3779G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3767,
          "referenceAllele": "G",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741307.1:n.3767G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5413,
          "referenceAllele": "G",
          "start": 5412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741308.1:n.5413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5401,
          "referenceAllele": "G",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741309.1:n.5401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5401,
          "referenceAllele": "G",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741310.1:n.5401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5250,
          "referenceAllele": "G",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "XR_001741311.2:n.5250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "referenceAllele": "G",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NM_025132.4:c.3703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079408.3:p.Glu1235Lys",
        "hgvsWellDefined": "NP_079408.3:p.Glu1235Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399820.8:c.3703G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025132.4:c.3703G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382717.3:p.Glu1235Lys"
          },
          "RefSeq": {
            "hgvs": "NP_079408.3:p.Glu1235Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972929",
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NM_001317924.2:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304853.1:p.Glu1075Lys",
        "hgvsWellDefined": "NP_001304853.1:p.Glu1075Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684355"
    }
  ],
  "type": "nucleotide"
}