Canonical Allele Identifier: CA370916918
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31068271T>C , CM000670.2:g.31068271T>C GRCh38
NC_000008.10:g.30925787T>C , CM000670.1:g.30925787T>C GRCh37
NC_000008.9:g.31045329T>C NCBI36
NG_008870.1:g.40010T>C , LRG_524:g.40010T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.668T>C MANE Select ENSP00000298139.5:p.Ile223Thr
ENST00000650667.1:c.*282T>C ENSP00000498593.1:n.*282T>C
ENST00000298139.5:c.668T>C ENSP00000298139.5:p.Ile223Thr
NM_000553.4:c.668T>C , LRG_524t1:c.668T>C NP_000544.2:p.Ile223Thr
XM_011544639.1:c.668T>C XP_011542941.1:p.Ile223Thr
XR_949470.1:n.941T>C
XR_949471.1:n.941T>C
XR_949472.1:n.941T>C
NM_000553.5:c.668T>C NP_000544.2:p.Ile223Thr
XM_011544639.3:c.668T>C XP_011542941.1:p.Ile223Thr
XM_024447265.1:c.458T>C XP_024303033.1:p.Ile153Thr
XR_949470.3:n.969T>C
XR_949471.3:n.969T>C
XR_949472.3:n.969T>C
NM_000553.6:c.668T>C MANE Select NP_000544.2:p.Ile223Thr