Canonical Allele Identifier: CA412943472

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075562G>C , CM000685.2:g.49075562G>C	GRCh38
NC_000023.10:g.48933221G>C , CM000685.1:g.48933221G>C	GRCh37
NC_000023.9:g.48820165G>C	NCBI36
NG_033004.1:g.29839C>G
NG_033004.2:g.30609C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.708C>G MANE Select	NP_001025067.1:p.Asp236Glu
ENST00000376372.9:c.708C>G MANE Select	ENSP00000365551.3:p.Asp236Glu
NM_001029896.1:c.708C>G	NP_001025067.1:p.Asp236Glu
NM_007075.3:c.711C>G	NP_009006.2:p.Asp237Glu
NM_007075.4:c.711C>G	NP_009006.2:p.Asp237Glu
ENST00000322995.13:c.741C>G	ENSP00000365543.5:p.Asp247Glu
ENST00000356463.7:c.711C>G	ENSP00000348848.3:p.Asp237Glu
ENST00000367375.8:c.487C>G
ENST00000376358.4:c.402C>G	ENSP00000365536.3:p.Asp134Glu
ENST00000376368.7:c.711C>G	ENSP00000365546.2:p.Asp237Glu
ENST00000376372.8:c.708C>G	ENSP00000365551.3:p.Asp236Glu
ENST00000396681.9:c.603C>G	ENSP00000379913.5:p.Asp201Glu
ENST00000433252.7:n.282C>G
ENST00000465806.6:n.1865C>G
ENST00000473974.5:c.708C>G	ENSP00000417211.1:p.Asp236Glu
ENST00000475880.6:c.606C>G	ENSP00000418919.2:p.Asp202Glu
ENST00000475977.2:c.204C>G	ENSP00000417754.2:p.Asp68Glu
ENST00000480412.2:n.313C>G
ENST00000485908.6:c.603C>G	ENSP00000419897.1:p.Asp201Glu
ENST00000634559.1:c.507C>G	ENSP00000488986.1:p.Asp169Glu
ENST00000634736.1:c.402C>G	ENSP00000489561.1:p.Asp134Glu
ENST00000634838.1:c.708C>G	ENSP00000489268.1:p.Asp236Glu
ENST00000634852.1:n.405C>G
ENST00000634944.1:c.708C>G	ENSP00000488972.1:p.Asp236Glu
ENST00000635003.1:c.507C>G	ENSP00000489080.1:p.Asp169Glu
ENST00000635344.1:c.*359C>G	ENSP00000489553.1:n.*359C>G
ENST00000635666.1:c.636C>G	ENSP00000489128.1:p.Asp212Glu