Canonical Allele Identifier: CA2580813852
Community Standard Title: NM_000553.6(WRN):c.2500C= (p.Arg834=)
Gene: WRN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2500C= MANE Select NP_000544.2:p.Arg834=
ENST00000298139.7:c.2500C= MANE Select ENSP00000298139.5:p.Arg834=
NM_000553.4:c.2500C= , LRG_524t1:c.2500C= NP_000544.2:p.Arg834=
NM_000553.5:c.2500C= NP_000544.2:p.Arg834=
ENST00000298139.5:c.2500C= ENSP00000298139.5:p.Arg834=
ENST00000520169.1:n.339C=
ENST00000521620.5:n.1133C=
ENST00000650667.1:c.*2114C= ENSP00000498593.1:n.*2114C=
XM_011544639.1:c.2419C= XP_011542941.1:p.Arg807=
XM_011544639.3:c.2419C= XP_011542941.1:p.Arg807=
XM_011544640.1:c.901C= XP_011542942.1:p.Arg301=
XM_024447265.1:c.2290C= XP_024303033.1:p.Arg764=
XR_949470.1:n.2773C=
XR_949470.3:n.2801C=
XR_949471.1:n.2773C=
XR_949471.3:n.2801C=
XR_949472.1:n.2773C=
XR_949472.3:n.2801C=