{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA209672", "communityStandardTitle": [ "NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209072[alleleid]", "alleleId": 209072, "preferredName": "NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212591", "RCV": [ "RCV000195088" ], "variationId": 212591 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48932515T>C?assembly=hg19", "id": "chrX:g.48932515T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.49074856T>C?assembly=hg38", "id": "chrX:g.49074856T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797046100", "rs": 797046100 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 49074856, "referenceAllele": "T", "start": 49074855 } ], "hgvs": [ "NC_000023.11:g.49074856T>C", "CM000685.2:g.49074856T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 48932515, "referenceAllele": "T", "start": 48932514 } ], "hgvs": [ "NC_000023.10:g.48932515T>C", "CM000685.1:g.48932515T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 48819459, "referenceAllele": "T", "start": 48819458 } ], "hgvs": [ "NC_000023.9:g.48819459T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 30545, "referenceAllele": "A", "start": 30544 } ], "hgvs": [ "NG_033004.1:g.30545A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005342" }, { "coordinates": [ { "allele": "G", "end": 31315, "referenceAllele": "A", "start": 31314 } ], "hgvs": [ "NG_033004.2:g.31315A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706153" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "A", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000376372.9:c.1030A>G" ], "proteinEffect": { "hgvs": "ENSP00000365551.3:p.Asn344Asp", "hgvsWellDefined": "ENSP00000365551.3:p.Asn344Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS751757", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376372.9:c.1030A>G" }, "RefSeq": { "hgvs": "NM_001029896.2:c.1030A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365551.3:p.Asn344Asp" }, "RefSeq": { "hgvs": "NP_001025067.1:p.Asn344Asp" } } } }, { "coordinates": [ { "allele": "G", "end": 1228, "referenceAllele": "A", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000322995.13:c.1063A>G" ], "proteinEffect": { "hgvs": "ENSP00000365543.5:p.Asn355Asp", "hgvsWellDefined": "ENSP00000365543.5:p.Asn355Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS258154" }, { "coordinates": [ { "allele": "G", "end": 1472, "referenceAllele": "A", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000356463.7:c.1033A>G" ], "proteinEffect": { "hgvs": "ENSP00000348848.3:p.Asn345Asp", "hgvsWellDefined": "ENSP00000348848.3:p.Asn345Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS263770" }, { "coordinates": [ { "allele": "G", "end": 809, "referenceAllele": "A", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000367375.8:c.809A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS266350" }, { "coordinates": [ { "allele": "G", "end": 675, "endIntronDirection": "+", "endIntronOffset": 508, "referenceAllele": "A", "start": 675, "startIntronDirection": "+", "startIntronOffset": 507 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000376358.4:c.521+508A>G" ], "proteinEffect": { "hgvs": "ENSP00000365536.3:n.521+508A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS271123" }, { "coordinates": [ { "allele": "G", "end": 1229, "referenceAllele": "A", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000376368.7:c.1033A>G" ], "proteinEffect": { "hgvs": "ENSP00000365546.2:p.Asn345Asp", "hgvsWellDefined": "ENSP00000365546.2:p.Asn345Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS271127" }, { "coordinates": [ { "allele": "G", "end": 1212, "referenceAllele": "A", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000376372.8:c.1030A>G" ], "proteinEffect": { "hgvs": "ENSP00000365551.3:p.Asn344Asp", "hgvsWellDefined": "ENSP00000365551.3:p.Asn344Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS271129" }, { "coordinates": [ { "allele": "G", "end": 1082, "referenceAllele": "A", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000396681.9:c.913A>G" ], "proteinEffect": { "hgvs": "ENSP00000379913.5:p.Asn305Asp", "hgvsWellDefined": "ENSP00000379913.5:p.Asn305Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS277392" }, { "coordinates": [ { "allele": "G", "end": 909, "referenceAllele": "A", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000433252.7:n.909A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS292449" }, { "coordinates": [ { "allele": "G", "end": 2187, "referenceAllele": "A", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000465806.6:n.2187A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309329" }, { "coordinates": [ { "allele": "G", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000473974.5:c.*11A>G" ], "proteinEffect": { "hgvs": "ENSP00000417211.1:n.*11A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS315587" }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "A", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000475977.2:c.380A>G" ], "proteinEffect": { "hgvs": "ENSP00000417754.2:n.380A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS317147" }, { "coordinates": [ { "allele": "G", "end": 1103, "referenceAllele": "A", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000485908.6:c.925A>G" ], "proteinEffect": { "hgvs": "ENSP00000419897.1:p.Asn309Asp", "hgvsWellDefined": "ENSP00000419897.1:p.Asn309Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS324831" }, { "coordinates": [ { "allele": "G", "end": 206, "referenceAllele": "A", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000486337.6:c.206A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325166" }, { "coordinates": [ { "allele": "G", "end": 976, "referenceAllele": "A", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000634559.1:c.817A>G" ], "proteinEffect": { "hgvs": "ENSP00000488986.1:p.Asn273Asp", "hgvsWellDefined": "ENSP00000488986.1:p.Asn273Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS407865" }, { "coordinates": [ { "allele": "G", "end": 1136, "referenceAllele": "A", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000634838.1:c.988A>G" ], "proteinEffect": { "hgvs": "ENSP00000489268.1:p.Asn330Asp", "hgvsWellDefined": "ENSP00000489268.1:p.Asn330Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS407951" }, { "coordinates": [ { "allele": "G", "end": 727, "referenceAllele": "A", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000634852.1:n.727A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS407958" }, { "coordinates": [ { "allele": "G", "end": 1331, "referenceAllele": "A", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000634944.1:c.1030A>G" ], "proteinEffect": { "hgvs": "ENSP00000488972.1:p.Asn344Asp", "hgvsWellDefined": "ENSP00000488972.1:p.Asn344Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS407989" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "A", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "ENST00000635003.1:c.829A>G" ], "proteinEffect": { "hgvs": "ENSP00000489080.1:p.Asn277Asp", "hgvsWellDefined": "ENSP00000489080.1:p.Asn277Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS408001" }, { "@id": "http://reg.genome.network/allele/PA2825345046", "coordinates": [ { "allele": "G", "end": 1202, "referenceAllele": "A", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_001029896.1:c.1030A>G" ], "proteinEffect": { "hgvs": "NP_001025067.1:p.Asn344Asp", "hgvsWellDefined": "NP_001025067.1:p.Asn344Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS008937" }, { "@id": "http://reg.genome.network/allele/PA209673", "coordinates": [ { "allele": "G", "end": 1472, "referenceAllele": "A", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_007075.3:c.1033A>G" ], "proteinEffect": { "hgvs": "NP_009006.2:p.Asn345Asp", "hgvsWellDefined": "NP_009006.2:p.Asn345Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS032025" }, { "@id": "http://reg.genome.network/allele/PA2825345046", "coordinates": [ { "allele": "G", "end": 1184, "referenceAllele": "A", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_001029896.2:c.1030A>G" ], "proteinEffect": { "hgvs": "NP_001025067.1:p.Asn344Asp", "hgvsWellDefined": "NP_001025067.1:p.Asn344Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS663021", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376372.9:c.1030A>G" }, "RefSeq": { "hgvs": "NM_001029896.2:c.1030A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365551.3:p.Asn344Asp" }, "RefSeq": { "hgvs": "NP_001025067.1:p.Asn344Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA209673", "coordinates": [ { "allele": "G", "end": 1529, "referenceAllele": "A", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_007075.4:c.1033A>G" ], "proteinEffect": { "hgvs": "NP_009006.2:p.Asn345Asp", "hgvsWellDefined": "NP_009006.2:p.Asn345Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS727799" } ], "type": "nucleotide" }