{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412949588",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611452[alleleid]",
        "alleleId": 611452,
        "preferredName": "NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620005",
        "RCV": [
          "RCV000760207",
          "RCV000999424"
        ],
        "variationId": 620005
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48935753A>T?assembly=hg19",
        "id": "chrX:g.48935753A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49078094A>T?assembly=hg38",
        "id": "chrX:g.49078094A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569523565",
        "rs": 1569523565
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49078094,
          "referenceAllele": "A",
          "start": 49078093
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49078094A>T",
        "CM000685.2:g.49078094A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48935753,
          "referenceAllele": "A",
          "start": 48935752
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48935753A>T",
        "CM000685.1:g.48935753A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48822697,
          "referenceAllele": "A",
          "start": 48822696
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48822697A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27307,
          "referenceAllele": "T",
          "start": 27306
        }
      ],
      "hgvs": [
        "NG_033004.1:g.27307T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28077,
          "referenceAllele": "T",
          "start": 28076
        }
      ],
      "hgvs": [
        "NG_033004.2:g.28077T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000365551.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Met1Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000636049.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490378.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000490378.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "T",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000636645.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490130.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000490130.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "T",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000365543.5:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000348848.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "T",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376357.1:n.178T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000365536.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "T",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000365546.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000365551.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "T",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000379913.5:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19,
          "referenceAllele": "T",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000393640.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "referenceAllele": "T",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000397657.3:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "T",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000420534.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465431.6:n.125T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "T",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.178T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176,
          "referenceAllele": "T",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000418466.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "referenceAllele": "T",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000417211.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "referenceAllele": "T",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000420728.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "T",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000418919.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000419324.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "T",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000419897.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000496803.6:n.184T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "T",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634390.1:n.174T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "referenceAllele": "T",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489330.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "referenceAllele": "T",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000488986.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 647,
          "referenceAllele": "T",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634671.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489040.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489040.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634711.1:n.184T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489561.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "T",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489268.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "T",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.68T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:p.Met23Lys",
        "hgvsWellDefined": "ENSP00000489150.1:p.Met23Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000488972.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "referenceAllele": "T",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489080.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "referenceAllele": "T",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000489553.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 182,
          "referenceAllele": "T",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.-17-183T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:n.-17-183T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344809",
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "T",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Met1Lys",
        "hgvsWellDefined": "NP_001025067.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195973",
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Met1Lys",
        "hgvsWellDefined": "NP_009006.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344809",
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "T",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Met1Lys",
        "hgvsWellDefined": "NP_001025067.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Met1Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195973",
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "T",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Met1Lys",
        "hgvsWellDefined": "NP_009006.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}