Canonical Allele Identifier: CA412941403

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49074869A>G , CM000685.2:g.49074869A>G	GRCh38
NC_000023.10:g.48932528A>G , CM000685.1:g.48932528A>G	GRCh37
NC_000023.9:g.48819472A>G	NCBI36
NG_033004.1:g.30532T>C
NG_033004.2:g.31302T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.1017T>C MANE Select	NP_001025067.1:p.Pro339=
ENST00000376372.9:c.1017T>C MANE Select	ENSP00000365551.3:p.Pro339=
NM_001029896.1:c.1017T>C	NP_001025067.1:p.Pro339=
NM_007075.3:c.1020T>C	NP_009006.2:p.Pro340=
NM_007075.4:c.1020T>C	NP_009006.2:p.Pro340=
ENST00000322995.13:c.1050T>C	ENSP00000365543.5:p.Pro350=
ENST00000356463.7:c.1020T>C	ENSP00000348848.3:p.Pro340=
ENST00000367375.8:c.796T>C
ENST00000376358.4:c.521+495T>C	ENSP00000365536.3:n.521+495T>C
ENST00000376368.7:c.1020T>C	ENSP00000365546.2:p.Pro340=
ENST00000376372.8:c.1017T>C	ENSP00000365551.3:p.Pro339=
ENST00000396681.9:c.900T>C	ENSP00000379913.5:p.Pro300=
ENST00000433252.7:n.896T>C
ENST00000465806.6:n.2174T>C
ENST00000473974.5:c.769T>C	ENSP00000417211.1:p.Ter257Arg
ENST00000475977.2:c.367T>C	ENSP00000417754.2:p.Ter123Arg
ENST00000485908.6:c.912T>C	ENSP00000419897.1:p.Pro304=
ENST00000486337.6:c.193T>C
ENST00000634559.1:c.804T>C	ENSP00000488986.1:p.Pro268=
ENST00000634838.1:c.975T>C	ENSP00000489268.1:p.Pro325=
ENST00000634852.1:n.714T>C
ENST00000634944.1:c.1017T>C	ENSP00000488972.1:p.Pro339=
ENST00000635003.1:c.816T>C	ENSP00000489080.1:p.Pro272=