Canonical Allele Identifier: CA412945145

Gene: WDR45

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075882C>T , CM000685.2:g.49075882C>T	GRCh38
NC_000023.10:g.48933541C>T , CM000685.1:g.48933541C>T	GRCh37
NC_000023.9:g.48820485C>T	NCBI36
NG_033004.1:g.29519G>A
NG_033004.2:g.30289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.500G>A MANE Select	ENSP00000365551.3:p.Gly167Glu
ENST00000322995.13:c.533G>A	ENSP00000365543.5:p.Gly178Glu
ENST00000356463.7:c.503G>A	ENSP00000348848.3:p.Gly168Glu
ENST00000367375.8:c.369G>A
ENST00000376358.4:c.194G>A	ENSP00000365536.3:p.Gly65Glu
ENST00000376368.7:c.503G>A	ENSP00000365546.2:p.Gly168Glu
ENST00000376372.8:c.500G>A	ENSP00000365551.3:p.Gly167Glu
ENST00000396681.9:c.395G>A	ENSP00000379913.5:p.Gly132Glu
ENST00000419567.7:c.524G>A	ENSP00000393640.3:p.Gly175Glu
ENST00000423215.3:c.554G>A	ENSP00000397657.3:p.Gly185Glu
ENST00000433252.7:n.74G>A
ENST00000465806.6:n.1657G>A
ENST00000471338.6:c.500G>A	ENSP00000418466.2:p.Gly167Glu
ENST00000472654.1:n.490G>A
ENST00000473974.5:c.500G>A	ENSP00000417211.1:p.Gly167Glu
ENST00000474053.6:c.575G>A	ENSP00000420728.1:p.Gly192Glu
ENST00000475880.6:c.398G>A	ENSP00000418919.2:p.Gly133Glu
ENST00000485908.6:c.395G>A	ENSP00000419897.1:p.Gly132Glu
ENST00000634522.1:c.*151G>A	ENSP00000489330.1:n.*151G>A
ENST00000634559.1:c.299G>A	ENSP00000488986.1:p.Gly100Glu
ENST00000634736.1:c.194G>A	ENSP00000489561.1:p.Gly65Glu
ENST00000634838.1:c.500G>A	ENSP00000489268.1:p.Gly167Glu
ENST00000634852.1:n.197G>A
ENST00000634944.1:c.500G>A	ENSP00000488972.1:p.Gly167Glu
ENST00000635003.1:c.299G>A	ENSP00000489080.1:p.Gly100Glu
ENST00000635344.1:c.*151G>A	ENSP00000489553.1:n.*151G>A
ENST00000635666.1:c.428G>A	ENSP00000489128.1:p.Gly143Glu
NM_001029896.1:c.500G>A	NP_001025067.1:p.Gly167Glu
NM_007075.3:c.503G>A	NP_009006.2:p.Gly168Glu
NM_001029896.2:c.500G>A MANE Select	NP_001025067.1:p.Gly167Glu
NM_007075.4:c.503G>A	NP_009006.2:p.Gly168Glu