Canonical Allele Identifier: CA412948991
Community Standard Title: NM_001029896.2(WDR45):c.235+2T>G
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49077641A>C , CM000685.2:g.49077641A>C GRCh38
NC_000023.10:g.48935300A>C , CM000685.1:g.48935300A>C GRCh37
NC_000023.9:g.48822244A>C NCBI36
NG_033004.1:g.27760T>G
NG_033004.2:g.28530T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.235+2T>G MANE Select NP_001025067.1:n.235+2T>G
ENST00000376372.9:c.235+2T>G MANE Select ENSP00000365551.3:n.235+2T>G
NM_001029896.1:c.235+2T>G NP_001025067.1:n.235+2T>G
NM_007075.3:c.235+2T>G NP_009006.2:n.235+2T>G
NM_007075.4:c.235+2T>G NP_009006.2:n.235+2T>G
ENST00000322995.13:c.235+2T>G ENSP00000365543.5:n.235+2T>G
ENST00000356463.7:c.235+2T>G ENSP00000348848.3:n.235+2T>G
ENST00000367375.8:c.104+2T>G
ENST00000376357.1:n.413T>G
ENST00000376358.4:c.130+196T>G ENSP00000365536.3:n.130+196T>G
ENST00000376368.7:c.235+2T>G ENSP00000365546.2:n.235+2T>G
ENST00000376372.8:c.235+2T>G ENSP00000365551.3:n.235+2T>G
ENST00000396681.9:c.130+196T>G ENSP00000379913.5:n.130+196T>G
ENST00000419567.7:c.235+2T>G ENSP00000393640.3:n.235+2T>G
ENST00000423215.3:c.235+2T>G ENSP00000397657.3:n.235+2T>G
ENST00000465382.6:c.235+2T>G ENSP00000420534.1:n.235+2T>G
ENST00000465431.6:n.254-57T>G
ENST00000465806.6:n.502T>G
ENST00000471338.6:c.235+2T>G ENSP00000418466.2:n.235+2T>G
ENST00000473974.5:c.235+2T>G ENSP00000417211.1:n.235+2T>G
ENST00000474053.6:c.235+2T>G ENSP00000420728.1:n.235+2T>G
ENST00000475880.6:c.130+196T>G ENSP00000418919.2:n.130+196T>G
ENST00000476728.5:c.130+196T>G ENSP00000419324.1:n.130+196T>G
ENST00000485908.6:c.130+196T>G ENSP00000419897.1:n.130+196T>G
ENST00000496803.6:n.419T>G
ENST00000634390.1:n.409T>G
ENST00000634522.1:c.235+2T>G ENSP00000489330.1:n.235+2T>G
ENST00000634559.1:c.235+2T>G ENSP00000488986.1:n.235+2T>G
ENST00000634711.1:n.508T>G
ENST00000634736.1:c.130+196T>G ENSP00000489561.1:n.130+196T>G
ENST00000634838.1:c.235+2T>G ENSP00000489268.1:n.235+2T>G
ENST00000634849.1:c.301+2T>G ENSP00000489150.1:n.301+2T>G
ENST00000634944.1:c.235+2T>G ENSP00000488972.1:n.235+2T>G
ENST00000635003.1:c.235+2T>G ENSP00000489080.1:n.235+2T>G
ENST00000635344.1:c.130+196T>G ENSP00000489553.1:n.130+196T>G
ENST00000635666.1:c.163+2T>G ENSP00000489128.1:n.163+2T>G