Canonical Allele Identifier: CA516364330

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075405A>G , CM000685.2:g.49075405A>G	GRCh38
NC_000023.10:g.48933064A>G , CM000685.1:g.48933064A>G	GRCh37
NC_000023.9:g.48820008A>G	NCBI36
NG_033004.1:g.29996T>C
NG_033004.2:g.30766T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.786T>C MANE Select	NP_001025067.1:p.His262=
ENST00000376372.9:c.786T>C MANE Select	ENSP00000365551.3:p.His262=
NM_001029896.1:c.786T>C	NP_001025067.1:p.His262=
NM_007075.3:c.789T>C	NP_009006.2:p.His263=
NM_007075.4:c.789T>C	NP_009006.2:p.His263=
ENST00000322995.13:c.819T>C	ENSP00000365543.5:p.His273=
ENST00000356463.7:c.789T>C	ENSP00000348848.3:p.His263=
ENST00000367375.8:c.565T>C
ENST00000376358.4:c.480T>C	ENSP00000365536.3:p.His160=
ENST00000376368.7:c.789T>C	ENSP00000365546.2:p.His263=
ENST00000376372.8:c.786T>C	ENSP00000365551.3:p.His262=
ENST00000396681.9:c.669T>C	ENSP00000379913.5:p.His223=
ENST00000433252.7:n.360T>C
ENST00000465806.6:n.1943T>C
ENST00000473974.5:c.725+140T>C	ENSP00000417211.1:n.725+140T>C
ENST00000475880.6:c.684T>C	ENSP00000418919.2:p.His228=
ENST00000475977.2:c.282T>C	ENSP00000417754.2:p.His94=
ENST00000480412.2:n.391T>C
ENST00000485908.6:c.681T>C	ENSP00000419897.1:p.His227=
ENST00000634559.1:c.573T>C	ENSP00000488986.1:p.His191=
ENST00000634736.1:c.480T>C	ENSP00000489561.1:p.His160=
ENST00000634838.1:c.744T>C	ENSP00000489268.1:p.His248=
ENST00000634852.1:n.483T>C
ENST00000634944.1:c.786T>C	ENSP00000488972.1:p.His262=
ENST00000635003.1:c.585T>C	ENSP00000489080.1:p.His195=
ENST00000635344.1:c.*437T>C	ENSP00000489553.1:n.*437T>C
ENST00000635666.1:c.714T>C	ENSP00000489128.1:p.His238=