Canonical Allele Identifier: CA412941988

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075180C>T , CM000685.2:g.49075180C>T	GRCh38
NC_000023.10:g.48932839C>T , CM000685.1:g.48932839C>T	GRCh37
NC_000023.9:g.48819783C>T	NCBI36
NG_033004.1:g.30221G>A
NG_033004.2:g.30991G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.929G>A MANE Select	NP_001025067.1:p.Cys310Tyr
ENST00000376372.9:c.929G>A MANE Select	ENSP00000365551.3:p.Cys310Tyr
NM_001029896.1:c.929G>A	NP_001025067.1:p.Cys310Tyr
NM_007075.3:c.932G>A	NP_009006.2:p.Cys311Tyr
NM_007075.4:c.932G>A	NP_009006.2:p.Cys311Tyr
ENST00000322995.13:c.962G>A	ENSP00000365543.5:p.Cys321Tyr
ENST00000356463.7:c.932G>A	ENSP00000348848.3:p.Cys311Tyr
ENST00000367375.8:c.708G>A
ENST00000376358.4:c.521+184G>A	ENSP00000365536.3:n.521+184G>A
ENST00000376368.7:c.932G>A	ENSP00000365546.2:p.Cys311Tyr
ENST00000376372.8:c.929G>A	ENSP00000365551.3:p.Cys310Tyr
ENST00000396681.9:c.812G>A	ENSP00000379913.5:p.Cys271Tyr
ENST00000433252.7:n.585G>A
ENST00000465806.6:n.2086G>A
ENST00000473974.5:c.726-268G>A	ENSP00000417211.1:n.726-268G>A
ENST00000475977.2:c.323+184G>A	ENSP00000417754.2:n.323+184G>A
ENST00000485908.6:c.824G>A	ENSP00000419897.1:p.Cys275Tyr
ENST00000486337.6:c.117G>A
ENST00000634559.1:c.716G>A	ENSP00000488986.1:p.Cys239Tyr
ENST00000634838.1:c.887G>A	ENSP00000489268.1:p.Cys296Tyr
ENST00000634852.1:n.626G>A
ENST00000634944.1:c.929G>A	ENSP00000488972.1:p.Cys310Tyr
ENST00000635003.1:c.728G>A	ENSP00000489080.1:p.Cys243Tyr