Canonical Allele Identifier: CA370908464
Community Standard Title: NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31100890G>T , CM000670.2:g.31100890G>T GRCh38
NC_000008.10:g.30958406G>T , CM000670.1:g.30958406G>T GRCh37
NC_000008.9:g.31077948G>T NCBI36
NG_008870.1:g.72629G>T , LRG_524:g.72629G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2023G>T MANE Select NP_000544.2:p.Glu675Ter
ENST00000298139.7:c.2023G>T MANE Select ENSP00000298139.5:p.Glu675Ter
NM_000553.4:c.2023G>T , LRG_524t1:c.2023G>T NP_000544.2:p.Glu675Ter
NM_000553.5:c.2023G>T NP_000544.2:p.Glu675Ter
ENST00000298139.5:c.2023G>T ENSP00000298139.5:p.Glu675Ter
ENST00000521620.5:n.656G>T
ENST00000650667.1:c.*1637G>T ENSP00000498593.1:n.*1637G>T
XM_011544639.1:c.1942G>T XP_011542941.1:p.Glu648Ter
XM_011544639.3:c.1942G>T XP_011542941.1:p.Glu648Ter
XM_011544640.1:c.424G>T XP_011542942.1:p.Glu142Ter
XM_024447265.1:c.1813G>T XP_024303033.1:p.Glu605Ter
XR_949470.1:n.2296G>T
XR_949470.3:n.2324G>T
XR_949471.1:n.2296G>T
XR_949471.3:n.2324G>T
XR_949472.1:n.2296G>T
XR_949472.3:n.2324G>T