Canonical Allele Identifier: CA370915333
Community Standard Title: NM_000553.6(WRN):c.2500C>A (p.Arg834Ser)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31120294C>A , CM000670.2:g.31120294C>A GRCh38
NC_000008.10:g.30977810C>A , CM000670.1:g.30977810C>A GRCh37
NC_000008.9:g.31097352C>A NCBI36
NG_008870.1:g.92033C>A , LRG_524:g.92033C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2500C>A MANE Select NP_000544.2:p.Arg834Ser
ENST00000298139.7:c.2500C>A MANE Select ENSP00000298139.5:p.Arg834Ser
NM_000553.4:c.2500C>A , LRG_524t1:c.2500C>A NP_000544.2:p.Arg834Ser
NM_000553.5:c.2500C>A NP_000544.2:p.Arg834Ser
ENST00000298139.5:c.2500C>A ENSP00000298139.5:p.Arg834Ser
ENST00000520169.1:n.339C>A
ENST00000521620.5:n.1133C>A
ENST00000650667.1:c.*2114C>A ENSP00000498593.1:n.*2114C>A
XM_011544639.1:c.2419C>A XP_011542941.1:p.Arg807Ser
XM_011544639.3:c.2419C>A XP_011542941.1:p.Arg807Ser
XM_011544640.1:c.901C>A XP_011542942.1:p.Arg301Ser
XM_024447265.1:c.2290C>A XP_024303033.1:p.Arg764Ser
XR_949470.1:n.2773C>A
XR_949470.3:n.2801C>A
XR_949471.1:n.2773C>A
XR_949471.3:n.2801C>A
XR_949472.1:n.2773C>A
XR_949472.3:n.2801C>A