Canonical Allele Identifier: CA2580101075
Community Standard Title: NM_001029896.2(WDR45):c.827+5G>T
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075359C>A , CM000685.2:g.49075359C>A GRCh38
NC_000023.10:g.48933018C>A , CM000685.1:g.48933018C>A GRCh37
NC_000023.9:g.48819962C>A NCBI36
NG_033004.1:g.30042G>T
NG_033004.2:g.30812G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.827+5G>T MANE Select NP_001025067.1:n.827+5G>T
ENST00000376372.9:c.827+5G>T MANE Select ENSP00000365551.3:n.827+5G>T
NM_001029896.1:c.827+5G>T NP_001025067.1:n.827+5G>T
NM_007075.3:c.830+5G>T NP_009006.2:n.830+5G>T
NM_007075.4:c.830+5G>T NP_009006.2:n.830+5G>T
ENST00000322995.13:c.860+5G>T ENSP00000365543.5:n.860+5G>T
ENST00000356463.7:c.830+5G>T ENSP00000348848.3:n.830+5G>T
ENST00000367375.8:c.606+5G>T
ENST00000376358.4:c.521+5G>T ENSP00000365536.3:n.521+5G>T
ENST00000376368.7:c.830+5G>T ENSP00000365546.2:n.830+5G>T
ENST00000376372.8:c.827+5G>T ENSP00000365551.3:n.827+5G>T
ENST00000396681.9:c.710+5G>T ENSP00000379913.5:n.710+5G>T
ENST00000433252.7:n.406G>T
ENST00000465806.6:n.1984+5G>T
ENST00000473974.5:c.725+186G>T ENSP00000417211.1:n.725+186G>T
ENST00000475977.2:c.323+5G>T ENSP00000417754.2:n.323+5G>T
ENST00000480412.2:n.437G>T
ENST00000485908.6:c.722+5G>T ENSP00000419897.1:n.722+5G>T
ENST00000486337.6:c.15+5G>T
ENST00000634559.1:c.614+5G>T ENSP00000488986.1:n.614+5G>T
ENST00000634736.1:c.521+5G>T ENSP00000489561.1:n.521+5G>T
ENST00000634838.1:c.785+5G>T ENSP00000489268.1:n.785+5G>T
ENST00000634852.1:n.524+5G>T
ENST00000634944.1:c.827+5G>T ENSP00000488972.1:n.827+5G>T
ENST00000635003.1:c.626+5G>T ENSP00000489080.1:n.626+5G>T
ENST00000635666.1:c.755+5G>T ENSP00000489128.1:n.755+5G>T