Canonical Allele Identifier: CA412941465

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49074880C>G , CM000685.2:g.49074880C>G	GRCh38
NC_000023.10:g.48932539C>G , CM000685.1:g.48932539C>G	GRCh37
NC_000023.9:g.48819483C>G	NCBI36
NG_033004.1:g.30521G>C
NG_033004.2:g.31291G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.1006G>C MANE Select	NP_001025067.1:p.Val336Leu
ENST00000376372.9:c.1006G>C MANE Select	ENSP00000365551.3:p.Val336Leu
NM_001029896.1:c.1006G>C	NP_001025067.1:p.Val336Leu
NM_007075.3:c.1009G>C	NP_009006.2:p.Val337Leu
NM_007075.4:c.1009G>C	NP_009006.2:p.Val337Leu
ENST00000322995.13:c.1039G>C	ENSP00000365543.5:p.Val347Leu
ENST00000356463.7:c.1009G>C	ENSP00000348848.3:p.Val337Leu
ENST00000367375.8:c.785G>C
ENST00000376358.4:c.521+484G>C	ENSP00000365536.3:n.521+484G>C
ENST00000376368.7:c.1009G>C	ENSP00000365546.2:p.Val337Leu
ENST00000376372.8:c.1006G>C	ENSP00000365551.3:p.Val336Leu
ENST00000396681.9:c.889G>C	ENSP00000379913.5:p.Val297Leu
ENST00000433252.7:n.885G>C
ENST00000465806.6:n.2163G>C
ENST00000473974.5:c.758G>C	ENSP00000417211.1:p.Cys253Ser
ENST00000475977.2:c.356G>C	ENSP00000417754.2:p.Cys119Ser
ENST00000485908.6:c.901G>C	ENSP00000419897.1:p.Val301Leu
ENST00000486337.6:c.182G>C
ENST00000634559.1:c.793G>C	ENSP00000488986.1:p.Val265Leu
ENST00000634838.1:c.964G>C	ENSP00000489268.1:p.Val322Leu
ENST00000634852.1:n.703G>C
ENST00000634944.1:c.1006G>C	ENSP00000488972.1:p.Val336Leu
ENST00000635003.1:c.805G>C	ENSP00000489080.1:p.Val269Leu