Canonical Allele Identifier: CA412945068

Gene: WDR45

Linked Data

• ClinVar Variation Id: 545080
• ClinVar RCV Id: RCV000656299 ; RCV000689103
• dbSNP Id: rs797046102
• MyVariant Identifiers: chrX:g.48933524C>T (hg19) ; chrX:g.49075865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075865C>T , CM000685.2:g.49075865C>T	GRCh38
NC_000023.10:g.48933524C>T , CM000685.1:g.48933524C>T	GRCh37
NC_000023.9:g.48820468C>T	NCBI36
NG_033004.1:g.29536G>A
NG_033004.2:g.30306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.516+1G>A MANE Select	ENSP00000365551.3:n.516+1G>A
ENST00000322995.13:c.549+1G>A	ENSP00000365543.5:n.549+1G>A
ENST00000356463.7:c.519+1G>A	ENSP00000348848.3:n.519+1G>A
ENST00000367375.8:c.385+1G>A
ENST00000376358.4:c.210+1G>A	ENSP00000365536.3:n.210+1G>A
ENST00000376368.7:c.519+1G>A	ENSP00000365546.2:n.519+1G>A
ENST00000376372.8:c.516+1G>A	ENSP00000365551.3:n.516+1G>A
ENST00000396681.9:c.411+1G>A	ENSP00000379913.5:n.411+1G>A
ENST00000419567.7:c.540+1G>A	ENSP00000393640.3:n.540+1G>A
ENST00000423215.3:c.570+1G>A	ENSP00000397657.3:n.570+1G>A
ENST00000433252.7:n.90+1G>A
ENST00000465806.6:n.1673+1G>A
ENST00000471338.6:c.516+1G>A	ENSP00000418466.2:n.516+1G>A
ENST00000472654.1:n.506+1G>A
ENST00000473974.5:c.516+1G>A	ENSP00000417211.1:n.516+1G>A
ENST00000474053.6:c.591+1G>A	ENSP00000420728.1:n.591+1G>A
ENST00000475880.6:c.414+1G>A	ENSP00000418919.2:n.414+1G>A
ENST00000475977.2:c.12+1G>A	ENSP00000417754.2:n.12+1G>A
ENST00000480412.2:n.10G>A
ENST00000485908.6:c.411+1G>A	ENSP00000419897.1:n.411+1G>A
ENST00000634522.1:c.*167+1G>A	ENSP00000489330.1:n.*167+1G>A
ENST00000634559.1:c.315+1G>A	ENSP00000488986.1:n.315+1G>A
ENST00000634736.1:c.210+1G>A	ENSP00000489561.1:n.210+1G>A
ENST00000634838.1:c.516+1G>A	ENSP00000489268.1:n.516+1G>A
ENST00000634852.1:n.213+1G>A
ENST00000634944.1:c.516+1G>A	ENSP00000488972.1:n.516+1G>A
ENST00000635003.1:c.315+1G>A	ENSP00000489080.1:n.315+1G>A
ENST00000635344.1:c.*167+1G>A	ENSP00000489553.1:n.*167+1G>A
ENST00000635666.1:c.444+1G>A	ENSP00000489128.1:n.444+1G>A
NM_001029896.1:c.516+1G>A	NP_001025067.1:n.516+1G>A
NM_007075.3:c.519+1G>A	NP_009006.2:n.519+1G>A
NM_001029896.2:c.516+1G>A MANE Select	NP_001025067.1:n.516+1G>A
NM_007075.4:c.519+1G>A	NP_009006.2:n.519+1G>A