Canonical Allele Identifier: CA370913464
Community Standard Title: NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31116390C>A , CM000670.2:g.31116390C>A GRCh38
NC_000008.10:g.30973906C>A , CM000670.1:g.30973906C>A GRCh37
NC_000008.9:g.31093448C>A NCBI36
NG_008870.1:g.88129C>A , LRG_524:g.88129C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2310C>A MANE Select NP_000544.2:p.Tyr770Ter
ENST00000298139.7:c.2310C>A MANE Select ENSP00000298139.5:p.Tyr770Ter
NM_000553.4:c.2310C>A , LRG_524t1:c.2310C>A NP_000544.2:p.Tyr770Ter
NM_000553.5:c.2310C>A NP_000544.2:p.Tyr770Ter
ENST00000298139.5:c.2310C>A ENSP00000298139.5:p.Tyr770Ter
ENST00000521620.5:n.943C>A
ENST00000650667.1:c.*1924C>A ENSP00000498593.1:n.*1924C>A
XM_011544639.1:c.2229C>A XP_011542941.1:p.Tyr743Ter
XM_011544639.3:c.2229C>A XP_011542941.1:p.Tyr743Ter
XM_011544640.1:c.711C>A XP_011542942.1:p.Tyr237Ter
XM_024447265.1:c.2100C>A XP_024303033.1:p.Tyr700Ter
XR_949470.1:n.2583C>A
XR_949470.3:n.2611C>A
XR_949471.1:n.2583C>A
XR_949471.3:n.2611C>A
XR_949472.1:n.2583C>A
XR_949472.3:n.2611C>A