Canonical Allele Identifier: CA412943588

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075576G>A , CM000685.2:g.49075576G>A	GRCh38
NC_000023.10:g.48933235G>A , CM000685.1:g.48933235G>A	GRCh37
NC_000023.9:g.48820179G>A	NCBI36
NG_033004.1:g.29825C>T
NG_033004.2:g.30595C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.694C>T MANE Select	NP_001025067.1:p.Arg232Cys
ENST00000376372.9:c.694C>T MANE Select	ENSP00000365551.3:p.Arg232Cys
NM_001029896.1:c.694C>T	NP_001025067.1:p.Arg232Cys
NM_007075.3:c.697C>T	NP_009006.2:p.Arg233Cys
NM_007075.4:c.697C>T	NP_009006.2:p.Arg233Cys
ENST00000322995.13:c.727C>T	ENSP00000365543.5:p.Arg243Cys
ENST00000356463.7:c.697C>T	ENSP00000348848.3:p.Arg233Cys
ENST00000367375.8:c.473C>T
ENST00000376358.4:c.388C>T	ENSP00000365536.3:p.Arg130Cys
ENST00000376368.7:c.697C>T	ENSP00000365546.2:p.Arg233Cys
ENST00000376372.8:c.694C>T	ENSP00000365551.3:p.Arg232Cys
ENST00000396681.9:c.589C>T	ENSP00000379913.5:p.Arg197Cys
ENST00000433252.7:n.268C>T
ENST00000465806.6:n.1851C>T
ENST00000473974.5:c.694C>T	ENSP00000417211.1:p.Arg232Cys
ENST00000475880.6:c.592C>T	ENSP00000418919.2:p.Arg198Cys
ENST00000475977.2:c.190C>T	ENSP00000417754.2:p.Arg64Cys
ENST00000480412.2:n.299C>T
ENST00000485908.6:c.589C>T	ENSP00000419897.1:p.Arg197Cys
ENST00000634559.1:c.493C>T	ENSP00000488986.1:p.Arg165Cys
ENST00000634736.1:c.388C>T	ENSP00000489561.1:p.Arg130Cys
ENST00000634838.1:c.694C>T	ENSP00000489268.1:p.Arg232Cys
ENST00000634852.1:n.391C>T
ENST00000634944.1:c.694C>T	ENSP00000488972.1:p.Arg232Cys
ENST00000635003.1:c.493C>T	ENSP00000489080.1:p.Arg165Cys
ENST00000635344.1:c.*345C>T	ENSP00000489553.1:n.*345C>T
ENST00000635666.1:c.622C>T	ENSP00000489128.1:p.Arg208Cys