Canonical Allele Identifier: CA370913941
Community Standard Title: NM_000553.6(WRN):c.238G>T (p.Gly80Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064317G>T , CM000670.2:g.31064317G>T GRCh38
NC_000008.10:g.30921833G>T , CM000670.1:g.30921833G>T GRCh37
NC_000008.9:g.31041375G>T NCBI36
NG_008870.1:g.36056G>T , LRG_524:g.36056G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.238G>T MANE Select NP_000544.2:p.Gly80Ter
ENST00000298139.7:c.238G>T MANE Select ENSP00000298139.5:p.Gly80Ter
NM_000553.4:c.238G>T , LRG_524t1:c.238G>T NP_000544.2:p.Gly80Ter
NM_000553.5:c.238G>T NP_000544.2:p.Gly80Ter
ENST00000298139.5:c.238G>T ENSP00000298139.5:p.Gly80Ter
ENST00000650667.1:c.210-598G>T ENSP00000498593.1:n.210-598G>T
XM_011544639.1:c.238G>T XP_011542941.1:p.Gly80Ter
XM_011544639.3:c.238G>T XP_011542941.1:p.Gly80Ter
XM_024447265.1:c.28G>T XP_024303033.1:p.Gly10Ter
XR_949470.1:n.511G>T
XR_949470.3:n.539G>T
XR_949471.1:n.511G>T
XR_949471.3:n.539G>T
XR_949472.1:n.511G>T
XR_949472.3:n.539G>T