{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412946549",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.342-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=677472[alleleid]",
        "alleleId": 677472,
        "preferredName": "NM_001029896.2(WDR45):c.342-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689799",
        "RCV": [
          "RCV000850624"
        ],
        "variationId": 689799
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48934185T>G?assembly=hg19",
        "id": "chrX:g.48934185T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49076526T>G?assembly=hg38",
        "id": "chrX:g.49076526T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1602539140",
        "rs": 1602539140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 49076526,
          "referenceAllele": "T",
          "start": 49076525
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49076526T>G",
        "CM000685.2:g.49076526T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48934185,
          "referenceAllele": "T",
          "start": 48934184
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48934185T>G",
        "CM000685.1:g.48934185T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48821129,
          "referenceAllele": "T",
          "start": 48821128
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48821129T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28875,
          "referenceAllele": "A",
          "start": 28874
        }
      ],
      "hgvs": [
        "NG_033004.1:g.28875A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29645,
          "referenceAllele": "A",
          "start": 29644
        }
      ],
      "hgvs": [
        "NG_033004.2:g.29645A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.342-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.342-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.342-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.342-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.345-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:n.345-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.211-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 580,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.131-581A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.131-581A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.345-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:n.345-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.237-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:n.237-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.396-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:n.396-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 676,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1498,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.1499-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000472654.1:n.247-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.417-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:n.417-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 386,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 386,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.240-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:n.240-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "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": [
        "ENST00000476728.5:c.237-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:n.237-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 414,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.237-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:n.237-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634465.1:n.620-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.236-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:n.236-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 580,
          "referenceAllele": "A",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.236-581A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:n.236-581A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "endIntronDirection": "-",
          "endIntronOffset": 580,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "-",
          "startIntronOffset": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.131-581A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.131-581A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.411-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:n.411-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "endIntronDirection": "-",
          "endIntronOffset": 62,
          "referenceAllele": "A",
          "start": 99,
          "startIntronDirection": "-",
          "startIntronOffset": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634852.1:n.100-63A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 580,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.236-581A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:n.236-581A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635329.1:n.151-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.131-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.131-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 386,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 386,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.270-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:n.270-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 513,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.345-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.345-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.342-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.342-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.342-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.342-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.342-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.342-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.345-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.345-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}