Canonical Allele Identifier: CA10408455
Community Standard Title: NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)
Gene: WDR45 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.870C>T MANE Select NP_001025067.1:p.Tyr290=
ENST00000376372.9:c.870C>T MANE Select ENSP00000365551.3:p.Tyr290=
NM_001029896.1:c.870C>T NP_001025067.1:p.Tyr290=
NM_007075.3:c.873C>T NP_009006.2:p.Tyr291=
NM_007075.4:c.873C>T NP_009006.2:p.Tyr291=
ENST00000322995.13:c.903C>T ENSP00000365543.5:p.Tyr301=
ENST00000356463.7:c.873C>T ENSP00000348848.3:p.Tyr291=
ENST00000367375.8:c.649C>T
ENST00000376358.4:c.521+125C>T ENSP00000365536.3:n.521+125C>T
ENST00000376368.7:c.873C>T ENSP00000365546.2:p.Tyr291=
ENST00000376372.8:c.870C>T ENSP00000365551.3:p.Tyr290=
ENST00000396681.9:c.753C>T ENSP00000379913.5:p.Tyr251=
ENST00000433252.7:n.526C>T
ENST00000465806.6:n.2027C>T
ENST00000473974.5:c.725+306C>T ENSP00000417211.1:n.725+306C>T
ENST00000475977.2:c.323+125C>T ENSP00000417754.2:n.323+125C>T
ENST00000485908.6:c.765C>T ENSP00000419897.1:p.Tyr255=
ENST00000486337.6:c.58C>T
ENST00000634559.1:c.657C>T ENSP00000488986.1:p.Tyr219=
ENST00000634736.1:c.564C>T ENSP00000489561.1:p.Tyr188=
ENST00000634838.1:c.828C>T ENSP00000489268.1:p.Tyr276=
ENST00000634852.1:n.567C>T
ENST00000634944.1:c.870C>T ENSP00000488972.1:p.Tyr290=
ENST00000635003.1:c.669C>T ENSP00000489080.1:p.Tyr223=
ENST00000635666.1:c.810C>T ENSP00000489128.1:p.Tyr270=