Canonical Allele Identifier: CA412943017

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075436A>G , CM000685.2:g.49075436A>G	GRCh38
NC_000023.10:g.48933095A>G , CM000685.1:g.48933095A>G	GRCh37
NC_000023.9:g.48820039A>G	NCBI36
NG_033004.1:g.29965T>C
NG_033004.2:g.30735T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.755T>C MANE Select	NP_001025067.1:p.Leu252Pro
ENST00000376372.9:c.755T>C MANE Select	ENSP00000365551.3:p.Leu252Pro
NM_001029896.1:c.755T>C	NP_001025067.1:p.Leu252Pro
NM_007075.3:c.758T>C	NP_009006.2:p.Leu253Pro
NM_007075.4:c.758T>C	NP_009006.2:p.Leu253Pro
ENST00000322995.13:c.788T>C	ENSP00000365543.5:p.Leu263Pro
ENST00000356463.7:c.758T>C	ENSP00000348848.3:p.Leu253Pro
ENST00000367375.8:c.534T>C
ENST00000376358.4:c.449T>C	ENSP00000365536.3:p.Leu150Pro
ENST00000376368.7:c.758T>C	ENSP00000365546.2:p.Leu253Pro
ENST00000376372.8:c.755T>C	ENSP00000365551.3:p.Leu252Pro
ENST00000396681.9:c.638T>C	ENSP00000379913.5:p.Leu213Pro
ENST00000433252.7:n.329T>C
ENST00000465806.6:n.1912T>C
ENST00000473974.5:c.725+109T>C	ENSP00000417211.1:n.725+109T>C
ENST00000475880.6:c.653T>C	ENSP00000418919.2:p.Leu218Pro
ENST00000475977.2:c.251T>C	ENSP00000417754.2:p.Leu84Pro
ENST00000480412.2:n.360T>C
ENST00000485908.6:c.650T>C	ENSP00000419897.1:p.Leu217Pro
ENST00000634559.1:c.542T>C	ENSP00000488986.1:p.Leu181Pro
ENST00000634736.1:c.449T>C	ENSP00000489561.1:p.Leu150Pro
ENST00000634838.1:c.726-13T>C	ENSP00000489268.1:n.726-13T>C
ENST00000634852.1:n.452T>C
ENST00000634944.1:c.755T>C	ENSP00000488972.1:p.Leu252Pro
ENST00000635003.1:c.554T>C	ENSP00000489080.1:p.Leu185Pro
ENST00000635344.1:c.*406T>C	ENSP00000489553.1:n.*406T>C
ENST00000635666.1:c.683T>C	ENSP00000489128.1:p.Leu228Pro