Canonical Allele Identifier: CA412949176

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49077708A>G , CM000685.2:g.49077708A>G	GRCh38
NC_000023.10:g.48935367A>G , CM000685.1:g.48935367A>G	GRCh37
NC_000023.9:g.48822311A>G	NCBI36
NG_033004.1:g.27693T>C
NG_033004.2:g.28463T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.170T>C MANE Select	NP_001025067.1:p.Leu57Pro
ENST00000376372.9:c.170T>C MANE Select	ENSP00000365551.3:p.Leu57Pro
NM_001029896.1:c.170T>C	NP_001025067.1:p.Leu57Pro
NM_007075.3:c.170T>C	NP_009006.2:p.Leu57Pro
NM_007075.4:c.170T>C	NP_009006.2:p.Leu57Pro
ENST00000322995.13:c.170T>C	ENSP00000365543.5:p.Leu57Pro
ENST00000356463.7:c.170T>C	ENSP00000348848.3:p.Leu57Pro
ENST00000367375.8:c.39T>C
ENST00000376357.1:n.346T>C
ENST00000376358.4:c.130+129T>C	ENSP00000365536.3:n.130+129T>C
ENST00000376368.7:c.170T>C	ENSP00000365546.2:p.Leu57Pro
ENST00000376372.8:c.170T>C	ENSP00000365551.3:p.Leu57Pro
ENST00000396681.9:c.130+129T>C	ENSP00000379913.5:n.130+129T>C
ENST00000419567.7:c.170T>C	ENSP00000393640.3:p.Leu57Pro
ENST00000423215.3:c.170T>C	ENSP00000397657.3:p.Leu57Pro
ENST00000465382.6:c.170T>C	ENSP00000420534.1:p.Leu57Pro
ENST00000465431.6:n.254-124T>C
ENST00000465806.6:n.435T>C
ENST00000471338.6:c.170T>C	ENSP00000418466.2:p.Leu57Pro
ENST00000473974.5:c.170T>C	ENSP00000417211.1:p.Leu57Pro
ENST00000474053.6:c.170T>C	ENSP00000420728.1:p.Leu57Pro
ENST00000475880.6:c.130+129T>C	ENSP00000418919.2:n.130+129T>C
ENST00000476728.5:c.130+129T>C	ENSP00000419324.1:n.130+129T>C
ENST00000485908.6:c.130+129T>C	ENSP00000419897.1:n.130+129T>C
ENST00000496803.6:n.352T>C
ENST00000634390.1:n.342T>C
ENST00000634522.1:c.170T>C	ENSP00000489330.1:p.Leu57Pro
ENST00000634559.1:c.170T>C	ENSP00000488986.1:p.Leu57Pro
ENST00000634671.1:c.122T>C	ENSP00000489040.1:p.Leu41Pro
ENST00000634711.1:n.441T>C
ENST00000634736.1:c.130+129T>C	ENSP00000489561.1:n.130+129T>C
ENST00000634838.1:c.170T>C	ENSP00000489268.1:p.Leu57Pro
ENST00000634849.1:c.236T>C	ENSP00000489150.1:p.Leu79Pro
ENST00000634944.1:c.170T>C	ENSP00000488972.1:p.Leu57Pro
ENST00000635003.1:c.170T>C	ENSP00000489080.1:p.Leu57Pro
ENST00000635344.1:c.130+129T>C	ENSP00000489553.1:n.130+129T>C
ENST00000635666.1:c.98T>C	ENSP00000489128.1:p.Leu33Pro