Canonical Allele Identifier: CA412944110

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075644G>C , CM000685.2:g.49075644G>C	GRCh38
NC_000023.10:g.48933303G>C , CM000685.1:g.48933303G>C	GRCh37
NC_000023.9:g.48820247G>C	NCBI36
NG_033004.1:g.29757C>G
NG_033004.2:g.30527C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.626C>G MANE Select	NP_001025067.1:p.Ser209Ter
ENST00000376372.9:c.626C>G MANE Select	ENSP00000365551.3:p.Ser209Ter
NM_001029896.1:c.626C>G	NP_001025067.1:p.Ser209Ter
NM_007075.3:c.629C>G	NP_009006.2:p.Ser210Ter
NM_007075.4:c.629C>G	NP_009006.2:p.Ser210Ter
ENST00000322995.13:c.659C>G	ENSP00000365543.5:p.Ser220Ter
ENST00000356463.7:c.629C>G	ENSP00000348848.3:p.Ser210Ter
ENST00000367375.8:c.405C>G
ENST00000376358.4:c.320C>G	ENSP00000365536.3:p.Ser107Ter
ENST00000376368.7:c.629C>G	ENSP00000365546.2:p.Ser210Ter
ENST00000376372.8:c.626C>G	ENSP00000365551.3:p.Ser209Ter
ENST00000396681.9:c.521C>G	ENSP00000379913.5:p.Ser174Ter
ENST00000433252.7:n.200C>G
ENST00000465806.6:n.1783C>G
ENST00000473974.5:c.626C>G	ENSP00000417211.1:p.Ser209Ter
ENST00000475880.6:c.524C>G	ENSP00000418919.2:p.Ser175Ter
ENST00000475977.2:c.122C>G	ENSP00000417754.2:p.Ser41Ter
ENST00000480412.2:n.231C>G
ENST00000485908.6:c.521C>G	ENSP00000419897.1:p.Ser174Ter
ENST00000634559.1:c.425C>G	ENSP00000488986.1:p.Ser142Ter
ENST00000634736.1:c.320C>G	ENSP00000489561.1:p.Ser107Ter
ENST00000634838.1:c.626C>G	ENSP00000489268.1:p.Ser209Ter
ENST00000634852.1:n.323C>G
ENST00000634944.1:c.626C>G	ENSP00000488972.1:p.Ser209Ter
ENST00000635003.1:c.425C>G	ENSP00000489080.1:p.Ser142Ter
ENST00000635344.1:c.*277C>G	ENSP00000489553.1:n.*277C>G
ENST00000635666.1:c.554C>G	ENSP00000489128.1:p.Ser185Ter