{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412949463",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.56-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=653535[alleleid]",
        "alleleId": 653535,
        "preferredName": "NM_001029896.2(WDR45):c.56-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/649495",
        "RCV": [
          "RCV000804443"
        ],
        "variationId": 649495
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48935572T>C?assembly=hg19",
        "id": "chrX:g.48935572T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49077913T>C?assembly=hg38",
        "id": "chrX:g.49077913T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1602540595",
        "rs": 1602540595
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 49077913,
          "referenceAllele": "T",
          "start": 49077912
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49077913T>C",
        "CM000685.2:g.49077913T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 48935572,
          "referenceAllele": "T",
          "start": 48935571
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48935572T>C",
        "CM000685.1:g.48935572T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 48822516,
          "referenceAllele": "T",
          "start": 48822515
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48822516T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27488,
          "referenceAllele": "A",
          "start": 27487
        }
      ],
      "hgvs": [
        "NG_033004.1:g.27488A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28258,
          "referenceAllele": "A",
          "start": 28257
        }
      ],
      "hgvs": [
        "NG_033004.2:g.28258A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.56-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.56-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.56-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.56-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 220,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376357.1:n.232-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 72,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465431.6:n.179-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.232-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 202,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 233,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 233,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000496803.6:n.238-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634390.1:n.228-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 139,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634671.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489040.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634711.1:n.238-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 203,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.122-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:n.122-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.-17-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:n.-17-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.56-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.56-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.56-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.56-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.56-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.56-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}