Canonical Allele Identifier: CA412942817

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075406T>G , CM000685.2:g.49075406T>G	GRCh38
NC_000023.10:g.48933065T>G , CM000685.1:g.48933065T>G	GRCh37
NC_000023.9:g.48820009T>G	NCBI36
NG_033004.1:g.29995A>C
NG_033004.2:g.30765A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.785A>C MANE Select	NP_001025067.1:p.His262Pro
ENST00000376372.9:c.785A>C MANE Select	ENSP00000365551.3:p.His262Pro
NM_001029896.1:c.785A>C	NP_001025067.1:p.His262Pro
NM_007075.3:c.788A>C	NP_009006.2:p.His263Pro
NM_007075.4:c.788A>C	NP_009006.2:p.His263Pro
ENST00000322995.13:c.818A>C	ENSP00000365543.5:p.His273Pro
ENST00000356463.7:c.788A>C	ENSP00000348848.3:p.His263Pro
ENST00000367375.8:c.564A>C
ENST00000376358.4:c.479A>C	ENSP00000365536.3:p.His160Pro
ENST00000376368.7:c.788A>C	ENSP00000365546.2:p.His263Pro
ENST00000376372.8:c.785A>C	ENSP00000365551.3:p.His262Pro
ENST00000396681.9:c.668A>C	ENSP00000379913.5:p.His223Pro
ENST00000433252.7:n.359A>C
ENST00000465806.6:n.1942A>C
ENST00000473974.5:c.725+139A>C	ENSP00000417211.1:n.725+139A>C
ENST00000475880.6:c.683A>C	ENSP00000418919.2:p.His228Pro
ENST00000475977.2:c.281A>C	ENSP00000417754.2:p.His94Pro
ENST00000480412.2:n.390A>C
ENST00000485908.6:c.680A>C	ENSP00000419897.1:p.His227Pro
ENST00000634559.1:c.572A>C	ENSP00000488986.1:p.His191Pro
ENST00000634736.1:c.479A>C	ENSP00000489561.1:p.His160Pro
ENST00000634838.1:c.743A>C	ENSP00000489268.1:p.His248Pro
ENST00000634852.1:n.482A>C
ENST00000634944.1:c.785A>C	ENSP00000488972.1:p.His262Pro
ENST00000635003.1:c.584A>C	ENSP00000489080.1:p.His195Pro
ENST00000635344.1:c.*436A>C	ENSP00000489553.1:n.*436A>C
ENST00000635666.1:c.713A>C	ENSP00000489128.1:p.His238Pro