Canonical Allele Identifier: CA412942297
Community Standard Title: NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075239G>C , CM000685.2:g.49075239G>C GRCh38
NC_000023.10:g.48932898G>C , CM000685.1:g.48932898G>C GRCh37
NC_000023.9:g.48819842G>C NCBI36
NG_033004.1:g.30162C>G
NG_033004.2:g.30932C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.870C>G MANE Select NP_001025067.1:p.Tyr290Ter
ENST00000376372.9:c.870C>G MANE Select ENSP00000365551.3:p.Tyr290Ter
NM_001029896.1:c.870C>G NP_001025067.1:p.Tyr290Ter
NM_007075.3:c.873C>G NP_009006.2:p.Tyr291Ter
NM_007075.4:c.873C>G NP_009006.2:p.Tyr291Ter
ENST00000322995.13:c.903C>G ENSP00000365543.5:p.Tyr301Ter
ENST00000356463.7:c.873C>G ENSP00000348848.3:p.Tyr291Ter
ENST00000367375.8:c.649C>G
ENST00000376358.4:c.521+125C>G ENSP00000365536.3:n.521+125C>G
ENST00000376368.7:c.873C>G ENSP00000365546.2:p.Tyr291Ter
ENST00000376372.8:c.870C>G ENSP00000365551.3:p.Tyr290Ter
ENST00000396681.9:c.753C>G ENSP00000379913.5:p.Tyr251Ter
ENST00000433252.7:n.526C>G
ENST00000465806.6:n.2027C>G
ENST00000473974.5:c.725+306C>G ENSP00000417211.1:n.725+306C>G
ENST00000475977.2:c.323+125C>G ENSP00000417754.2:n.323+125C>G
ENST00000485908.6:c.765C>G ENSP00000419897.1:p.Tyr255Ter
ENST00000486337.6:c.58C>G
ENST00000634559.1:c.657C>G ENSP00000488986.1:p.Tyr219Ter
ENST00000634736.1:c.564C>G ENSP00000489561.1:p.Tyr188Ter
ENST00000634838.1:c.828C>G ENSP00000489268.1:p.Tyr276Ter
ENST00000634852.1:n.567C>G
ENST00000634944.1:c.870C>G ENSP00000488972.1:p.Tyr290Ter
ENST00000635003.1:c.669C>G ENSP00000489080.1:p.Tyr223Ter
ENST00000635666.1:c.810C>G ENSP00000489128.1:p.Tyr270Ter