Canonical Allele Identifier: CA16621426
Gene: WDR45 HGNC NCBI

Linked Data

ClinVar Variation Id: 420854
ClinVar RCV Id: RCV000485248
dbSNP Id: rs1064794744

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49078055A>G , CM000685.2:g.49078055A>G GRCh38
NC_000023.10:g.48935714A>G , CM000685.1:g.48935714A>G GRCh37
NC_000023.9:g.48822658A>G NCBI36
NG_033004.1:g.27346T>C
NG_033004.2:g.28116T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376372.9:c.41T>C MANE Select ENSP00000365551.3:p.Phe14Ser
ENST00000636049.1:c.41T>C ENSP00000490378.1:p.Phe14Ser
ENST00000322995.13:c.41T>C ENSP00000365543.5:p.Phe14Ser
ENST00000356463.7:c.41T>C ENSP00000348848.3:p.Phe14Ser
ENST00000376357.1:n.217T>C
ENST00000376358.4:c.41T>C ENSP00000365536.3:p.Phe14Ser
ENST00000376368.7:c.41T>C ENSP00000365546.2:p.Phe14Ser
ENST00000376372.8:c.41T>C ENSP00000365551.3:p.Phe14Ser
ENST00000396681.9:c.41T>C ENSP00000379913.5:p.Phe14Ser
ENST00000419567.7:c.41T>C ENSP00000393640.3:p.Phe14Ser
ENST00000423215.3:c.41T>C ENSP00000397657.3:p.Phe14Ser
ENST00000465382.6:c.41T>C ENSP00000420534.1:p.Phe14Ser
ENST00000465431.6:n.164T>C
ENST00000465806.6:n.217T>C
ENST00000471338.6:c.41T>C ENSP00000418466.2:p.Phe14Ser
ENST00000473974.5:c.41T>C ENSP00000417211.1:p.Phe14Ser
ENST00000474053.6:c.41T>C ENSP00000420728.1:p.Phe14Ser
ENST00000475880.6:c.41T>C ENSP00000418919.2:p.Phe14Ser
ENST00000476728.5:c.41T>C ENSP00000419324.1:p.Phe14Ser
ENST00000485908.6:c.41T>C ENSP00000419897.1:p.Phe14Ser
ENST00000496803.6:n.223T>C
ENST00000634390.1:n.213T>C
ENST00000634522.1:c.41T>C ENSP00000489330.1:p.Phe14Ser
ENST00000634559.1:c.41T>C ENSP00000488986.1:p.Phe14Ser
ENST00000634671.1:c.41T>C ENSP00000489040.1:p.Phe14Ser
ENST00000634711.1:n.223T>C
ENST00000634736.1:c.41T>C ENSP00000489561.1:p.Phe14Ser
ENST00000634838.1:c.41T>C ENSP00000489268.1:p.Phe14Ser
ENST00000634849.1:c.107T>C ENSP00000489150.1:p.Phe36Ser
ENST00000634944.1:c.41T>C ENSP00000488972.1:p.Phe14Ser
ENST00000635003.1:c.41T>C ENSP00000489080.1:p.Phe14Ser
ENST00000635344.1:c.41T>C ENSP00000489553.1:p.Phe14Ser
ENST00000635666.1:c.-17-144T>C ENSP00000489128.1:n.-17-144T>C
NM_001029896.1:c.41T>C NP_001025067.1:p.Phe14Ser
NM_007075.3:c.41T>C NP_009006.2:p.Phe14Ser
NM_001029896.2:c.41T>C MANE Select NP_001025067.1:p.Phe14Ser
NM_007075.4:c.41T>C NP_009006.2:p.Phe14Ser