Canonical Allele Identifier: CA10408484

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075575C>T , CM000685.2:g.49075575C>T	GRCh38
NC_000023.10:g.48933234C>T , CM000685.1:g.48933234C>T	GRCh37
NC_000023.9:g.48820178C>T	NCBI36
NG_033004.1:g.29826G>A
NG_033004.2:g.30596G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.695G>A MANE Select	NP_001025067.1:p.Arg232His
ENST00000376372.9:c.695G>A MANE Select	ENSP00000365551.3:p.Arg232His
NM_001029896.1:c.695G>A	NP_001025067.1:p.Arg232His
NM_007075.3:c.698G>A	NP_009006.2:p.Arg233His
NM_007075.4:c.698G>A	NP_009006.2:p.Arg233His
ENST00000322995.13:c.728G>A	ENSP00000365543.5:p.Arg243His
ENST00000356463.7:c.698G>A	ENSP00000348848.3:p.Arg233His
ENST00000367375.8:c.474G>A
ENST00000376358.4:c.389G>A	ENSP00000365536.3:p.Arg130His
ENST00000376368.7:c.698G>A	ENSP00000365546.2:p.Arg233His
ENST00000376372.8:c.695G>A	ENSP00000365551.3:p.Arg232His
ENST00000396681.9:c.590G>A	ENSP00000379913.5:p.Arg197His
ENST00000433252.7:n.269G>A
ENST00000465806.6:n.1852G>A
ENST00000473974.5:c.695G>A	ENSP00000417211.1:p.Arg232His
ENST00000475880.6:c.593G>A	ENSP00000418919.2:p.Arg198His
ENST00000475977.2:c.191G>A	ENSP00000417754.2:p.Arg64His
ENST00000480412.2:n.300G>A
ENST00000485908.6:c.590G>A	ENSP00000419897.1:p.Arg197His
ENST00000634559.1:c.494G>A	ENSP00000488986.1:p.Arg165His
ENST00000634736.1:c.389G>A	ENSP00000489561.1:p.Arg130His
ENST00000634838.1:c.695G>A	ENSP00000489268.1:p.Arg232His
ENST00000634852.1:n.392G>A
ENST00000634944.1:c.695G>A	ENSP00000488972.1:p.Arg232His
ENST00000635003.1:c.494G>A	ENSP00000489080.1:p.Arg165His
ENST00000635344.1:c.*346G>A	ENSP00000489553.1:n.*346G>A
ENST00000635666.1:c.623G>A	ENSP00000489128.1:p.Arg208His