Canonical Allele Identifier: CA370916202
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067122C>A , CM000670.2:g.31067122C>A GRCh38
NC_000008.10:g.30924638C>A , CM000670.1:g.30924638C>A GRCh37
NC_000008.9:g.31044180C>A NCBI36
NG_008870.1:g.38861C>A , LRG_524:g.38861C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.594C>A MANE Select ENSP00000298139.5:p.Ser198Arg
ENST00000650667.1:c.*208C>A ENSP00000498593.1:n.*208C>A
ENST00000298139.5:c.594C>A ENSP00000298139.5:p.Ser198Arg
NM_000553.4:c.594C>A , LRG_524t1:c.594C>A NP_000544.2:p.Ser198Arg
XM_011544639.1:c.594C>A XP_011542941.1:p.Ser198Arg
XR_949470.1:n.867C>A
XR_949471.1:n.867C>A
XR_949472.1:n.867C>A
NM_000553.5:c.594C>A NP_000544.2:p.Ser198Arg
XM_011544639.3:c.594C>A XP_011542941.1:p.Ser198Arg
XM_024447265.1:c.384C>A XP_024303033.1:p.Ser128Arg
XR_949470.3:n.895C>A
XR_949471.3:n.895C>A
XR_949472.3:n.895C>A
NM_000553.6:c.594C>A MANE Select NP_000544.2:p.Ser198Arg