Canonical Allele Identifier: CA370913831
Community Standard Title: NM_000553.6(WRN):c.221C>G (p.Ser74Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064300C>G , CM000670.2:g.31064300C>G GRCh38
NC_000008.10:g.30921816C>G , CM000670.1:g.30921816C>G GRCh37
NC_000008.9:g.31041358C>G NCBI36
NG_008870.1:g.36039C>G , LRG_524:g.36039C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.221C>G MANE Select NP_000544.2:p.Ser74Ter
ENST00000298139.7:c.221C>G MANE Select ENSP00000298139.5:p.Ser74Ter
NM_000553.4:c.221C>G , LRG_524t1:c.221C>G NP_000544.2:p.Ser74Ter
NM_000553.5:c.221C>G NP_000544.2:p.Ser74Ter
ENST00000298139.5:c.221C>G ENSP00000298139.5:p.Ser74Ter
ENST00000650667.1:c.210-615C>G ENSP00000498593.1:n.210-615C>G
XM_011544639.1:c.221C>G XP_011542941.1:p.Ser74Ter
XM_011544639.3:c.221C>G XP_011542941.1:p.Ser74Ter
XM_024447265.1:c.11C>G XP_024303033.1:p.Ser4Ter
XR_949470.1:n.494C>G
XR_949470.3:n.522C>G
XR_949471.1:n.494C>G
XR_949471.3:n.522C>G
XR_949472.1:n.494C>G
XR_949472.3:n.522C>G