Canonical Allele Identifier: CA412941993

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075181A>G , CM000685.2:g.49075181A>G	GRCh38
NC_000023.10:g.48932840A>G , CM000685.1:g.48932840A>G	GRCh37
NC_000023.9:g.48819784A>G	NCBI36
NG_033004.1:g.30220T>C
NG_033004.2:g.30990T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.928T>C MANE Select	NP_001025067.1:p.Cys310Arg
ENST00000376372.9:c.928T>C MANE Select	ENSP00000365551.3:p.Cys310Arg
NM_001029896.1:c.928T>C	NP_001025067.1:p.Cys310Arg
NM_007075.3:c.931T>C	NP_009006.2:p.Cys311Arg
NM_007075.4:c.931T>C	NP_009006.2:p.Cys311Arg
ENST00000322995.13:c.961T>C	ENSP00000365543.5:p.Cys321Arg
ENST00000356463.7:c.931T>C	ENSP00000348848.3:p.Cys311Arg
ENST00000367375.8:c.707T>C
ENST00000376358.4:c.521+183T>C	ENSP00000365536.3:n.521+183T>C
ENST00000376368.7:c.931T>C	ENSP00000365546.2:p.Cys311Arg
ENST00000376372.8:c.928T>C	ENSP00000365551.3:p.Cys310Arg
ENST00000396681.9:c.811T>C	ENSP00000379913.5:p.Cys271Arg
ENST00000433252.7:n.584T>C
ENST00000465806.6:n.2085T>C
ENST00000473974.5:c.726-269T>C	ENSP00000417211.1:n.726-269T>C
ENST00000475977.2:c.323+183T>C	ENSP00000417754.2:n.323+183T>C
ENST00000485908.6:c.823T>C	ENSP00000419897.1:p.Cys275Arg
ENST00000486337.6:c.116T>C
ENST00000634559.1:c.715T>C	ENSP00000488986.1:p.Cys239Arg
ENST00000634838.1:c.886T>C	ENSP00000489268.1:p.Cys296Arg
ENST00000634852.1:n.625T>C
ENST00000634944.1:c.928T>C	ENSP00000488972.1:p.Cys310Arg
ENST00000635003.1:c.727T>C	ENSP00000489080.1:p.Cys243Arg