Canonical Allele Identifier: CA214839

Gene: WDR45

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075866C>G , CM000685.2:g.49075866C>G	GRCh38
NC_000023.10:g.48933525C>G , CM000685.1:g.48933525C>G	GRCh37
NC_000023.9:g.48820469C>G	NCBI36
NG_033004.1:g.29535G>C
NG_033004.2:g.30305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.516G>C MANE Select	ENSP00000365551.3:p.Val172=
ENST00000322995.13:c.549G>C	ENSP00000365543.5:p.Val183=
ENST00000356463.7:c.519G>C	ENSP00000348848.3:p.Val173=
ENST00000367375.8:c.385G>C
ENST00000376358.4:c.210G>C	ENSP00000365536.3:p.Val70=
ENST00000376368.7:c.519G>C	ENSP00000365546.2:p.Val173=
ENST00000376372.8:c.516G>C	ENSP00000365551.3:p.Val172=
ENST00000396681.9:c.411G>C	ENSP00000379913.5:p.Val137=
ENST00000419567.7:c.540G>C	ENSP00000393640.3:p.Val180=
ENST00000423215.3:c.570G>C	ENSP00000397657.3:p.Val190=
ENST00000433252.7:n.90G>C
ENST00000465806.6:n.1673G>C
ENST00000471338.6:c.516G>C	ENSP00000418466.2:p.Val172=
ENST00000472654.1:n.506G>C
ENST00000473974.5:c.516G>C	ENSP00000417211.1:p.Val172=
ENST00000474053.6:c.591G>C	ENSP00000420728.1:p.Val197=
ENST00000475880.6:c.414G>C	ENSP00000418919.2:p.Val138=
ENST00000475977.2:c.12G>C	ENSP00000417754.2:p.Val4=
ENST00000480412.2:n.9G>C
ENST00000485908.6:c.411G>C	ENSP00000419897.1:p.Val137=
ENST00000634522.1:c.*167G>C	ENSP00000489330.1:n.*167G>C
ENST00000634559.1:c.315G>C	ENSP00000488986.1:p.Val105=
ENST00000634736.1:c.210G>C	ENSP00000489561.1:p.Val70=
ENST00000634838.1:c.516G>C	ENSP00000489268.1:p.Val172=
ENST00000634852.1:n.213G>C
ENST00000634944.1:c.516G>C	ENSP00000488972.1:p.Val172=
ENST00000635003.1:c.315G>C	ENSP00000489080.1:p.Val105=
ENST00000635344.1:c.*167G>C	ENSP00000489553.1:n.*167G>C
ENST00000635666.1:c.444G>C	ENSP00000489128.1:p.Val148=
NM_001029896.1:c.516G>C	NP_001025067.1:p.Val172=
NM_007075.3:c.519G>C	NP_009006.2:p.Val173=
NM_001029896.2:c.516G>C MANE Select	NP_001025067.1:p.Val172=
NM_007075.4:c.519G>C	NP_009006.2:p.Val173=