Canonical Allele Identifier: CA412944057

Gene: WDR45

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49075636G>T , CM000685.2:g.49075636G>T	GRCh38
NC_000023.10:g.48933295G>T , CM000685.1:g.48933295G>T	GRCh37
NC_000023.9:g.48820239G>T	NCBI36
NG_033004.1:g.29765C>A
NG_033004.2:g.30535C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376372.9:c.634C>A MANE Select	ENSP00000365551.3:p.Gln212Lys
ENST00000322995.13:c.667C>A	ENSP00000365543.5:p.Gln223Lys
ENST00000356463.7:c.637C>A	ENSP00000348848.3:p.Gln213Lys
ENST00000367375.8:c.413C>A
ENST00000376358.4:c.328C>A	ENSP00000365536.3:p.Gln110Lys
ENST00000376368.7:c.637C>A	ENSP00000365546.2:p.Gln213Lys
ENST00000376372.8:c.634C>A	ENSP00000365551.3:p.Gln212Lys
ENST00000396681.9:c.529C>A	ENSP00000379913.5:p.Gln177Lys
ENST00000433252.7:n.208C>A
ENST00000465806.6:n.1791C>A
ENST00000473974.5:c.634C>A	ENSP00000417211.1:p.Gln212Lys
ENST00000475880.6:c.532C>A	ENSP00000418919.2:p.Gln178Lys
ENST00000475977.2:c.130C>A	ENSP00000417754.2:p.Gln44Lys
ENST00000480412.2:n.239C>A
ENST00000485908.6:c.529C>A	ENSP00000419897.1:p.Gln177Lys
ENST00000634559.1:c.433C>A	ENSP00000488986.1:p.Gln145Lys
ENST00000634736.1:c.328C>A	ENSP00000489561.1:p.Gln110Lys
ENST00000634838.1:c.634C>A	ENSP00000489268.1:p.Gln212Lys
ENST00000634852.1:n.331C>A
ENST00000634944.1:c.634C>A	ENSP00000488972.1:p.Gln212Lys
ENST00000635003.1:c.433C>A	ENSP00000489080.1:p.Gln145Lys
ENST00000635344.1:c.*285C>A	ENSP00000489553.1:n.*285C>A
ENST00000635666.1:c.562C>A	ENSP00000489128.1:p.Gln188Lys
NM_001029896.1:c.634C>A	NP_001025067.1:p.Gln212Lys
NM_007075.3:c.637C>A	NP_009006.2:p.Gln213Lys
NM_001029896.2:c.634C>A MANE Select	NP_001025067.1:p.Gln212Lys
NM_007075.4:c.637C>A	NP_009006.2:p.Gln213Lys