Canonical Allele Identifier: CA10603602

Gene: WDR45

Linked Data

• ClinVar Variation Id: 280098
• ClinVar RCV Id: RCV000272581 ; RCV000624584 ; RCV000705613 ; RCV001255400 ; RCV003883145
• dbSNP Id: rs886041382
• COSMIC: COSM2966928 ; COSM4379586
• MyVariant Identifiers: chrX:g.48935736G>A (hg19) ; chrX:g.49078077G>A (hg38)
• PubMed: PMID:20562859 ; PMID:23176820 ; PMID:23435086 ; PMID:23687123 ; PMID:24621584 ; PMID:24847269 ; PMID:25263061 ; PMID:25592411 ; PMID:26173968 ; PMID:28932395

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49078077G>A , CM000685.2:g.49078077G>A	GRCh38
NC_000023.10:g.48935736G>A , CM000685.1:g.48935736G>A	GRCh37
NC_000023.9:g.48822680G>A	NCBI36
NG_033004.1:g.27324C>T
NG_033004.2:g.28094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.19C>T MANE Select	ENSP00000365551.3:p.Arg7Ter
ENST00000636049.1:c.19C>T	ENSP00000490378.1:p.Arg7Ter
ENST00000636645.1:c.19C>T	ENSP00000490130.1:p.Arg7Ter
ENST00000322995.13:c.19C>T	ENSP00000365543.5:p.Arg7Ter
ENST00000356463.7:c.19C>T	ENSP00000348848.3:p.Arg7Ter
ENST00000376357.1:n.195C>T
ENST00000376358.4:c.19C>T	ENSP00000365536.3:p.Arg7Ter
ENST00000376368.7:c.19C>T	ENSP00000365546.2:p.Arg7Ter
ENST00000376372.8:c.19C>T	ENSP00000365551.3:p.Arg7Ter
ENST00000396681.9:c.19C>T	ENSP00000379913.5:p.Arg7Ter
ENST00000419567.7:c.19C>T	ENSP00000393640.3:p.Arg7Ter
ENST00000423215.3:c.19C>T	ENSP00000397657.3:p.Arg7Ter
ENST00000465382.6:c.19C>T	ENSP00000420534.1:p.Arg7Ter
ENST00000465431.6:n.142C>T
ENST00000465806.6:n.195C>T
ENST00000471338.6:c.19C>T	ENSP00000418466.2:p.Arg7Ter
ENST00000473974.5:c.19C>T	ENSP00000417211.1:p.Arg7Ter
ENST00000474053.6:c.19C>T	ENSP00000420728.1:p.Arg7Ter
ENST00000475880.6:c.19C>T	ENSP00000418919.2:p.Arg7Ter
ENST00000476728.5:c.19C>T	ENSP00000419324.1:p.Arg7Ter
ENST00000485908.6:c.19C>T	ENSP00000419897.1:p.Arg7Ter
ENST00000496803.6:n.201C>T
ENST00000634390.1:n.191C>T
ENST00000634522.1:c.19C>T	ENSP00000489330.1:p.Arg7Ter
ENST00000634559.1:c.19C>T	ENSP00000488986.1:p.Arg7Ter
ENST00000634671.1:c.19C>T	ENSP00000489040.1:p.Arg7Ter
ENST00000634711.1:n.201C>T
ENST00000634736.1:c.19C>T	ENSP00000489561.1:p.Arg7Ter
ENST00000634838.1:c.19C>T	ENSP00000489268.1:p.Arg7Ter
ENST00000634849.1:c.85C>T	ENSP00000489150.1:p.Arg29Ter
ENST00000634944.1:c.19C>T	ENSP00000488972.1:p.Arg7Ter
ENST00000635003.1:c.19C>T	ENSP00000489080.1:p.Arg7Ter
ENST00000635344.1:c.19C>T	ENSP00000489553.1:p.Arg7Ter
ENST00000635666.1:c.-17-166C>T	ENSP00000489128.1:n.-17-166C>T
NM_001029896.1:c.19C>T	NP_001025067.1:p.Arg7Ter
NM_007075.3:c.19C>T	NP_009006.2:p.Arg7Ter
NM_001029896.2:c.19C>T MANE Select	NP_001025067.1:p.Arg7Ter
NM_007075.4:c.19C>T	NP_009006.2:p.Arg7Ter