Canonical Allele Identifier: CA162734
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141445G>A , CM000670.2:g.31141445G>A GRCh38
NC_000008.10:g.30998961G>A , CM000670.1:g.30998961G>A GRCh37
NC_000008.9:g.31118503G>A NCBI36
NG_008870.1:g.113184G>A , LRG_524:g.113184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2983G>A MANE Select ENSP00000298139.5:p.Ala995Thr
ENST00000650667.1:c.*2597G>A ENSP00000498593.1:n.*2597G>A
ENST00000298139.5:c.2983G>A ENSP00000298139.5:p.Ala995Thr
ENST00000521620.5:n.1616G>A
NM_000553.4:c.2983G>A , LRG_524t1:c.2983G>A NP_000544.2:p.Ala995Thr
XM_011544639.1:c.2902G>A XP_011542941.1:p.Ala968Thr
XM_011544640.1:c.1384G>A XP_011542942.1:p.Ala462Thr
XR_949470.1:n.3256G>A
XR_949471.1:n.3256G>A
XR_949472.1:n.3256G>A
NM_000553.5:c.2983G>A NP_000544.2:p.Ala995Thr
XM_011544639.3:c.2902G>A XP_011542941.1:p.Ala968Thr
XM_024447265.1:c.2773G>A XP_024303033.1:p.Ala925Thr
XR_949470.3:n.3284G>A
XR_949471.3:n.3284G>A
XR_949472.3:n.3284G>A
NM_000553.6:c.2983G>A MANE Select NP_000544.2:p.Ala995Thr