Canonical Allele Identifier: CA412945318

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075906A>G , CM000685.2:g.49075906A>G	GRCh38
NC_000023.10:g.48933565A>G , CM000685.1:g.48933565A>G	GRCh37
NC_000023.9:g.48820509A>G	NCBI36
NG_033004.1:g.29495T>C
NG_033004.2:g.30265T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.476T>C MANE Select	NP_001025067.1:p.Leu159Pro
ENST00000376372.9:c.476T>C MANE Select	ENSP00000365551.3:p.Leu159Pro
NM_001029896.1:c.476T>C	NP_001025067.1:p.Leu159Pro
NM_007075.3:c.479T>C	NP_009006.2:p.Leu160Pro
NM_007075.4:c.479T>C	NP_009006.2:p.Leu160Pro
ENST00000322995.13:c.509T>C	ENSP00000365543.5:p.Leu170Pro
ENST00000356463.7:c.479T>C	ENSP00000348848.3:p.Leu160Pro
ENST00000367375.8:c.345T>C
ENST00000376358.4:c.170T>C	ENSP00000365536.3:p.Leu57Pro
ENST00000376368.7:c.479T>C	ENSP00000365546.2:p.Leu160Pro
ENST00000376372.8:c.476T>C	ENSP00000365551.3:p.Leu159Pro
ENST00000396681.9:c.371T>C	ENSP00000379913.5:p.Leu124Pro
ENST00000419567.7:c.500T>C	ENSP00000393640.3:p.Leu167Pro
ENST00000423215.3:c.530T>C	ENSP00000397657.3:p.Leu177Pro
ENST00000433252.7:n.50T>C
ENST00000465806.6:n.1633T>C
ENST00000471338.6:c.476T>C	ENSP00000418466.2:p.Leu159Pro
ENST00000472654.1:n.466T>C
ENST00000473974.5:c.476T>C	ENSP00000417211.1:p.Leu159Pro
ENST00000474053.6:c.551T>C	ENSP00000420728.1:p.Leu184Pro
ENST00000475880.6:c.374T>C	ENSP00000418919.2:p.Leu125Pro
ENST00000476728.5:c.404T>C	ENSP00000419324.1:p.Leu135Pro
ENST00000485908.6:c.371T>C	ENSP00000419897.1:p.Leu124Pro
ENST00000634522.1:c.*127T>C	ENSP00000489330.1:n.*127T>C
ENST00000634559.1:c.275T>C	ENSP00000488986.1:p.Leu92Pro
ENST00000634736.1:c.170T>C	ENSP00000489561.1:p.Leu57Pro
ENST00000634838.1:c.476T>C	ENSP00000489268.1:p.Leu159Pro
ENST00000634852.1:n.173T>C
ENST00000634944.1:c.476T>C	ENSP00000488972.1:p.Leu159Pro
ENST00000635003.1:c.275T>C	ENSP00000489080.1:p.Leu92Pro
ENST00000635344.1:c.*127T>C	ENSP00000489553.1:n.*127T>C
ENST00000635666.1:c.404T>C	ENSP00000489128.1:p.Leu135Pro