Canonical Allele Identifier: CA370921755
Community Standard Title: NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141456T>A , CM000670.2:g.31141456T>A GRCh38
NC_000008.10:g.30998972T>A , CM000670.1:g.30998972T>A GRCh37
NC_000008.9:g.31118514T>A NCBI36
NG_008870.1:g.113195T>A , LRG_524:g.113195T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2994T>A MANE Select NP_000544.2:p.Tyr998Ter
ENST00000298139.7:c.2994T>A MANE Select ENSP00000298139.5:p.Tyr998Ter
NM_000553.4:c.2994T>A , LRG_524t1:c.2994T>A NP_000544.2:p.Tyr998Ter
NM_000553.5:c.2994T>A NP_000544.2:p.Tyr998Ter
ENST00000298139.5:c.2994T>A ENSP00000298139.5:p.Tyr998Ter
ENST00000521620.5:n.1627T>A
ENST00000650667.1:c.*2608T>A ENSP00000498593.1:n.*2608T>A
XM_011544639.1:c.2913T>A XP_011542941.1:p.Tyr971Ter
XM_011544639.3:c.2913T>A XP_011542941.1:p.Tyr971Ter
XM_011544640.1:c.1395T>A XP_011542942.1:p.Tyr465Ter
XM_024447265.1:c.2784T>A XP_024303033.1:p.Tyr928Ter
XR_949470.1:n.3267T>A
XR_949470.3:n.3295T>A
XR_949471.1:n.3267T>A
XR_949471.3:n.3295T>A
XR_949472.1:n.3267T>A
XR_949472.3:n.3295T>A