Canonical Allele Identifier: CA370928474
Community Standard Title: NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31091871C>A , CM000670.2:g.31091871C>A GRCh38
NC_000008.10:g.30949387C>A , CM000670.1:g.30949387C>A GRCh37
NC_000008.9:g.31068929C>A NCBI36
NG_008870.1:g.63610C>A , LRG_524:g.63610C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1871C>A MANE Select NP_000544.2:p.Ser624Ter
ENST00000298139.7:c.1871C>A MANE Select ENSP00000298139.5:p.Ser624Ter
NM_000553.4:c.1871C>A , LRG_524t1:c.1871C>A NP_000544.2:p.Ser624Ter
NM_000553.5:c.1871C>A NP_000544.2:p.Ser624Ter
ENST00000298139.5:c.1871C>A ENSP00000298139.5:p.Ser624Ter
ENST00000521620.5:n.504C>A
ENST00000650667.1:c.*1485C>A ENSP00000498593.1:n.*1485C>A
XM_011544639.1:c.1790C>A XP_011542941.1:p.Ser597Ter
XM_011544639.3:c.1790C>A XP_011542941.1:p.Ser597Ter
XM_011544640.1:c.272C>A XP_011542942.1:p.Ser91Ter
XM_024447265.1:c.1661C>A XP_024303033.1:p.Ser554Ter
XR_949470.1:n.2144C>A
XR_949470.3:n.2172C>A
XR_949471.1:n.2144C>A
XR_949471.3:n.2172C>A
XR_949472.1:n.2144C>A
XR_949472.3:n.2172C>A