Canonical Allele Identifier: CA412949148
Community Standard Title: NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)
Gene: WDR45 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49077695G>C , CM000685.2:g.49077695G>C GRCh38
NC_000023.10:g.48935354G>C , CM000685.1:g.48935354G>C GRCh37
NC_000023.9:g.48822298G>C NCBI36
NG_033004.1:g.27706C>G
NG_033004.2:g.28476C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001029896.2:c.183C>G MANE Select NP_001025067.1:p.Asn61Lys
ENST00000376372.9:c.183C>G MANE Select ENSP00000365551.3:p.Asn61Lys
NM_001029896.1:c.183C>G NP_001025067.1:p.Asn61Lys
NM_007075.3:c.183C>G NP_009006.2:p.Asn61Lys
NM_007075.4:c.183C>G NP_009006.2:p.Asn61Lys
ENST00000322995.13:c.183C>G ENSP00000365543.5:p.Asn61Lys
ENST00000356463.7:c.183C>G ENSP00000348848.3:p.Asn61Lys
ENST00000367375.8:c.52C>G
ENST00000376357.1:n.359C>G
ENST00000376358.4:c.130+142C>G ENSP00000365536.3:n.130+142C>G
ENST00000376368.7:c.183C>G ENSP00000365546.2:p.Asn61Lys
ENST00000376372.8:c.183C>G ENSP00000365551.3:p.Asn61Lys
ENST00000396681.9:c.130+142C>G ENSP00000379913.5:n.130+142C>G
ENST00000419567.7:c.183C>G ENSP00000393640.3:p.Asn61Lys
ENST00000423215.3:c.183C>G ENSP00000397657.3:p.Asn61Lys
ENST00000465382.6:c.183C>G ENSP00000420534.1:p.Asn61Lys
ENST00000465431.6:n.254-111C>G
ENST00000465806.6:n.448C>G
ENST00000471338.6:c.183C>G ENSP00000418466.2:p.Asn61Lys
ENST00000473974.5:c.183C>G ENSP00000417211.1:p.Asn61Lys
ENST00000474053.6:c.183C>G ENSP00000420728.1:p.Asn61Lys
ENST00000475880.6:c.130+142C>G ENSP00000418919.2:n.130+142C>G
ENST00000476728.5:c.130+142C>G ENSP00000419324.1:n.130+142C>G
ENST00000485908.6:c.130+142C>G ENSP00000419897.1:n.130+142C>G
ENST00000496803.6:n.365C>G
ENST00000634390.1:n.355C>G
ENST00000634522.1:c.183C>G ENSP00000489330.1:p.Asn61Lys
ENST00000634559.1:c.183C>G ENSP00000488986.1:p.Asn61Lys
ENST00000634671.1:c.135C>G ENSP00000489040.1:p.Asn45Lys
ENST00000634711.1:n.454C>G
ENST00000634736.1:c.130+142C>G ENSP00000489561.1:n.130+142C>G
ENST00000634838.1:c.183C>G ENSP00000489268.1:p.Asn61Lys
ENST00000634849.1:c.249C>G ENSP00000489150.1:p.Asn83Lys
ENST00000634944.1:c.183C>G ENSP00000488972.1:p.Asn61Lys
ENST00000635003.1:c.183C>G ENSP00000489080.1:p.Asn61Lys
ENST00000635344.1:c.130+142C>G ENSP00000489553.1:n.130+142C>G
ENST00000635666.1:c.111C>G ENSP00000489128.1:p.Asn37Lys