Canonical Allele Identifier: CA10408569

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49076660C>T , CM000685.2:g.49076660C>T	GRCh38
NC_000023.10:g.48934319C>T , CM000685.1:g.48934319C>T	GRCh37
NC_000023.9:g.48821263C>T	NCBI36
NG_033004.1:g.28741G>A
NG_033004.2:g.29511G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.326G>A MANE Select	NP_001025067.1:p.Arg109His
ENST00000376372.9:c.326G>A MANE Select	ENSP00000365551.3:p.Arg109His
NM_001029896.1:c.326G>A	NP_001025067.1:p.Arg109His
NM_007075.3:c.329G>A	NP_009006.2:p.Arg110His
NM_007075.4:c.329G>A	NP_009006.2:p.Arg110His
ENST00000322995.13:c.326G>A	ENSP00000365543.5:p.Arg109His
ENST00000356463.7:c.329G>A	ENSP00000348848.3:p.Arg110His
ENST00000367375.8:c.195G>A
ENST00000376358.4:c.131-715G>A	ENSP00000365536.3:n.131-715G>A
ENST00000376368.7:c.329G>A	ENSP00000365546.2:p.Arg110His
ENST00000376372.8:c.326G>A	ENSP00000365551.3:p.Arg109His
ENST00000396681.9:c.221G>A	ENSP00000379913.5:p.Arg74His
ENST00000419567.7:c.326G>A	ENSP00000393640.3:p.Arg109His
ENST00000423215.3:c.380G>A	ENSP00000397657.3:p.Arg127His
ENST00000465382.6:c.326G>A	ENSP00000420534.1:p.Arg109His
ENST00000465806.6:n.1483G>A
ENST00000471338.6:c.326G>A	ENSP00000418466.2:p.Arg109His
ENST00000472654.1:n.231G>A
ENST00000473974.5:c.326G>A	ENSP00000417211.1:p.Arg109His
ENST00000474053.6:c.401G>A	ENSP00000420728.1:p.Arg134His
ENST00000475880.6:c.224G>A	ENSP00000418919.2:p.Arg75His
ENST00000476728.5:c.221G>A	ENSP00000419324.1:p.Arg74His
ENST00000485908.6:c.221G>A	ENSP00000419897.1:p.Arg74His
ENST00000634465.1:n.604G>A
ENST00000634522.1:c.236-136G>A	ENSP00000489330.1:n.236-136G>A
ENST00000634559.1:c.236-715G>A	ENSP00000488986.1:n.236-715G>A
ENST00000634736.1:c.131-715G>A	ENSP00000489561.1:n.131-715G>A
ENST00000634838.1:c.326G>A	ENSP00000489268.1:p.Arg109His
ENST00000634849.1:c.395G>A	ENSP00000489150.1:p.Arg132His
ENST00000634852.1:n.100-197G>A
ENST00000634944.1:c.326G>A	ENSP00000488972.1:p.Arg109His
ENST00000635003.1:c.236-715G>A	ENSP00000489080.1:n.236-715G>A
ENST00000635329.1:n.135G>A
ENST00000635344.1:c.131-136G>A	ENSP00000489553.1:n.131-136G>A
ENST00000635666.1:c.254G>A	ENSP00000489128.1:p.Arg85His