Canonical Allele Identifier: CA412942137
Community Standard Title: NM_001029896.2(WDR45):c.902C>G (p.Thr301Ser)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075207G>C , CM000685.2:g.49075207G>C GRCh38
NC_000023.10:g.48932866G>C , CM000685.1:g.48932866G>C GRCh37
NC_000023.9:g.48819810G>C NCBI36
NG_033004.1:g.30194C>G
NG_033004.2:g.30964C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.902C>G MANE Select NP_001025067.1:p.Thr301Ser
ENST00000376372.9:c.902C>G MANE Select ENSP00000365551.3:p.Thr301Ser
NM_001029896.1:c.902C>G NP_001025067.1:p.Thr301Ser
NM_007075.3:c.905C>G NP_009006.2:p.Thr302Ser
NM_007075.4:c.905C>G NP_009006.2:p.Thr302Ser
ENST00000322995.13:c.935C>G ENSP00000365543.5:p.Thr312Ser
ENST00000356463.7:c.905C>G ENSP00000348848.3:p.Thr302Ser
ENST00000367375.8:c.681C>G
ENST00000376358.4:c.521+157C>G ENSP00000365536.3:n.521+157C>G
ENST00000376368.7:c.905C>G ENSP00000365546.2:p.Thr302Ser
ENST00000376372.8:c.902C>G ENSP00000365551.3:p.Thr301Ser
ENST00000396681.9:c.785C>G ENSP00000379913.5:p.Thr262Ser
ENST00000433252.7:n.558C>G
ENST00000465806.6:n.2059C>G
ENST00000473974.5:c.726-295C>G ENSP00000417211.1:n.726-295C>G
ENST00000475977.2:c.323+157C>G ENSP00000417754.2:n.323+157C>G
ENST00000485908.6:c.797C>G ENSP00000419897.1:p.Thr266Ser
ENST00000486337.6:c.90C>G
ENST00000634559.1:c.689C>G ENSP00000488986.1:p.Thr230Ser
ENST00000634838.1:c.860C>G ENSP00000489268.1:p.Thr287Ser
ENST00000634852.1:n.599C>G
ENST00000634944.1:c.902C>G ENSP00000488972.1:p.Thr301Ser
ENST00000635003.1:c.701C>G ENSP00000489080.1:p.Thr234Ser