Canonical Allele Identifier: CA412941719
Community Standard Title: NM_001029896.2(WDR45):c.974-2A>G
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49074914T>C , CM000685.2:g.49074914T>C GRCh38
NC_000023.10:g.48932573T>C , CM000685.1:g.48932573T>C GRCh37
NC_000023.9:g.48819517T>C NCBI36
NG_033004.1:g.30487A>G
NG_033004.2:g.31257A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.974-2A>G MANE Select NP_001025067.1:n.974-2A>G
ENST00000376372.9:c.974-2A>G MANE Select ENSP00000365551.3:n.974-2A>G
NM_001029896.1:c.974-2A>G NP_001025067.1:n.974-2A>G
NM_007075.3:c.977-2A>G NP_009006.2:n.977-2A>G
NM_007075.4:c.977-2A>G NP_009006.2:n.977-2A>G
ENST00000322995.13:c.1007-2A>G ENSP00000365543.5:n.1007-2A>G
ENST00000356463.7:c.977-2A>G ENSP00000348848.3:n.977-2A>G
ENST00000367375.8:c.753-2A>G
ENST00000376358.4:c.521+450A>G ENSP00000365536.3:n.521+450A>G
ENST00000376368.7:c.977-2A>G ENSP00000365546.2:n.977-2A>G
ENST00000376372.8:c.974-2A>G ENSP00000365551.3:n.974-2A>G
ENST00000396681.9:c.857-2A>G ENSP00000379913.5:n.857-2A>G
ENST00000433252.7:n.851A>G
ENST00000465806.6:n.2131-2A>G
ENST00000473974.5:c.726-2A>G ENSP00000417211.1:n.726-2A>G
ENST00000475977.2:c.324-2A>G ENSP00000417754.2:n.324-2A>G
ENST00000485908.6:c.869-2A>G ENSP00000419897.1:n.869-2A>G
ENST00000486337.6:c.162-14A>G
ENST00000634559.1:c.761-2A>G ENSP00000488986.1:n.761-2A>G
ENST00000634838.1:c.932-2A>G ENSP00000489268.1:n.932-2A>G
ENST00000634852.1:n.671-2A>G
ENST00000634944.1:c.974-2A>G ENSP00000488972.1:n.974-2A>G
ENST00000635003.1:c.773-2A>G ENSP00000489080.1:n.773-2A>G