{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412941993",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2173224[alleleid]",
        "alleleId": 2173224,
        "preferredName": "NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2120504",
        "RCV": [
          "RCV003025183"
        ],
        "variationId": 2120504
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48932840A>G?assembly=hg19",
        "id": "chrX:g.48932840A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49075181A>G?assembly=hg38",
        "id": "chrX:g.49075181A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2520260202",
        "rs": 2520260202
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 49075181,
          "referenceAllele": "A",
          "start": 49075180
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49075181A>G",
        "CM000685.2:g.49075181A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48932840,
          "referenceAllele": "A",
          "start": 48932839
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48932840A>G",
        "CM000685.1:g.48932840A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48819784,
          "referenceAllele": "A",
          "start": 48819783
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48819784A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30220,
          "referenceAllele": "T",
          "start": 30219
        }
      ],
      "hgvs": [
        "NG_033004.1:g.30220T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30990,
          "referenceAllele": "T",
          "start": 30989
        }
      ],
      "hgvs": [
        "NG_033004.2:g.30990T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Cys310Arg",
        "hgvsWellDefined": "ENSP00000365551.3:p.Cys310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.928T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.928T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Cys310Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Cys310Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.961T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Cys321Arg",
        "hgvsWellDefined": "ENSP00000365543.5:p.Cys321Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.931T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Cys311Arg",
        "hgvsWellDefined": "ENSP00000348848.3:p.Cys311Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "T",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.707T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 183,
          "referenceAllele": "T",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.521+183T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.521+183T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.931T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Cys311Arg",
        "hgvsWellDefined": "ENSP00000365546.2:p.Cys311Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Cys310Arg",
        "hgvsWellDefined": "ENSP00000365551.3:p.Cys310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "T",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.811T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:p.Cys271Arg",
        "hgvsWellDefined": "ENSP00000379913.5:p.Cys271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "T",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000433252.7:n.584T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "referenceAllele": "T",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.2085T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "endIntronDirection": "-",
          "endIntronOffset": 268,
          "referenceAllele": "T",
          "start": 864,
          "startIntronDirection": "-",
          "startIntronOffset": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.726-269T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:n.726-269T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 183,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475977.2:c.323+183T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417754.2:n.323+183T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "T",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.823T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:p.Cys275Arg",
        "hgvsWellDefined": "ENSP00000419897.1:p.Cys275Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "referenceAllele": "T",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000486337.6:c.116T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "T",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.715T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:p.Cys239Arg",
        "hgvsWellDefined": "ENSP00000488986.1:p.Cys239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "referenceAllele": "T",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.886T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Cys296Arg",
        "hgvsWellDefined": "ENSP00000489268.1:p.Cys296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 625,
          "referenceAllele": "T",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634852.1:n.625T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Cys310Arg",
        "hgvsWellDefined": "ENSP00000488972.1:p.Cys310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "T",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.727T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Cys243Arg",
        "hgvsWellDefined": "ENSP00000489080.1:p.Cys243Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825345015",
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "T",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Cys310Arg",
        "hgvsWellDefined": "NP_001025067.1:p.Cys310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580340011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.931T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Cys311Arg",
        "hgvsWellDefined": "NP_009006.2:p.Cys311Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825345015",
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.928T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Cys310Arg",
        "hgvsWellDefined": "NP_001025067.1:p.Cys310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.928T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.928T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Cys310Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Cys310Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580340011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1427,
          "referenceAllele": "T",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.931T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Cys311Arg",
        "hgvsWellDefined": "NP_009006.2:p.Cys311Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}