Canonical Allele Identifier: CA370916367
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067160T>G , CM000670.2:g.31067160T>G GRCh38
NC_000008.10:g.30924676T>G , CM000670.1:g.30924676T>G GRCh37
NC_000008.9:g.31044218T>G NCBI36
NG_008870.1:g.38899T>G , LRG_524:g.38899T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.632T>G MANE Select ENSP00000298139.5:p.Leu211Arg
ENST00000650667.1:c.*246T>G ENSP00000498593.1:n.*246T>G
ENST00000298139.5:c.632T>G ENSP00000298139.5:p.Leu211Arg
NM_000553.4:c.632T>G , LRG_524t1:c.632T>G NP_000544.2:p.Leu211Arg
XM_011544639.1:c.632T>G XP_011542941.1:p.Leu211Arg
XR_949470.1:n.905T>G
XR_949471.1:n.905T>G
XR_949472.1:n.905T>G
NM_000553.5:c.632T>G NP_000544.2:p.Leu211Arg
XM_011544639.3:c.632T>G XP_011542941.1:p.Leu211Arg
XM_024447265.1:c.422T>G XP_024303033.1:p.Leu141Arg
XR_949470.3:n.933T>G
XR_949471.3:n.933T>G
XR_949472.3:n.933T>G
NM_000553.6:c.632T>G MANE Select NP_000544.2:p.Leu211Arg