Canonical Allele Identifier: CA329136959
Community Standard Title: NM_001029896.2(WDR45):c.962A>G (p.Asn321Ser)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49075147T>C , CM000685.2:g.49075147T>C GRCh38
NC_000023.10:g.48932806T>C , CM000685.1:g.48932806T>C GRCh37
NC_000023.9:g.48819750T>C NCBI36
NG_033004.1:g.30254A>G
NG_033004.2:g.31024A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.962A>G MANE Select NP_001025067.1:p.Asn321Ser
ENST00000376372.9:c.962A>G MANE Select ENSP00000365551.3:p.Asn321Ser
NM_001029896.1:c.962A>G NP_001025067.1:p.Asn321Ser
NM_007075.3:c.965A>G NP_009006.2:p.Asn322Ser
NM_007075.4:c.965A>G NP_009006.2:p.Asn322Ser
ENST00000322995.13:c.995A>G ENSP00000365543.5:p.Asn332Ser
ENST00000356463.7:c.965A>G ENSP00000348848.3:p.Asn322Ser
ENST00000367375.8:c.741A>G
ENST00000376358.4:c.521+217A>G ENSP00000365536.3:n.521+217A>G
ENST00000376368.7:c.965A>G ENSP00000365546.2:p.Asn322Ser
ENST00000376372.8:c.962A>G ENSP00000365551.3:p.Asn321Ser
ENST00000396681.9:c.845A>G ENSP00000379913.5:p.Asn282Ser
ENST00000433252.7:n.618A>G
ENST00000465806.6:n.2119A>G
ENST00000473974.5:c.726-235A>G ENSP00000417211.1:n.726-235A>G
ENST00000475977.2:c.323+217A>G ENSP00000417754.2:n.323+217A>G
ENST00000485908.6:c.857A>G ENSP00000419897.1:p.Asn286Ser
ENST00000486337.6:c.150A>G
ENST00000634559.1:c.749A>G ENSP00000488986.1:p.Asn250Ser
ENST00000634838.1:c.920A>G ENSP00000489268.1:p.Asn307Ser
ENST00000634852.1:n.659A>G
ENST00000634944.1:c.962A>G ENSP00000488972.1:p.Asn321Ser
ENST00000635003.1:c.761A>G ENSP00000489080.1:p.Asn254Ser