Canonical Allele Identifier: CA370914829
Community Standard Title: NM_000553.6(WRN):c.434G>A (p.Trp145Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064993G>A , CM000670.2:g.31064993G>A GRCh38
NC_000008.10:g.30922509G>A , CM000670.1:g.30922509G>A GRCh37
NC_000008.9:g.31042051G>A NCBI36
NG_008870.1:g.36732G>A , LRG_524:g.36732G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.434G>A MANE Select NP_000544.2:p.Trp145Ter
ENST00000298139.7:c.434G>A MANE Select ENSP00000298139.5:p.Trp145Ter
NM_000553.4:c.434G>A , LRG_524t1:c.434G>A NP_000544.2:p.Trp145Ter
NM_000553.5:c.434G>A NP_000544.2:p.Trp145Ter
ENST00000298139.5:c.434G>A ENSP00000298139.5:p.Trp145Ter
ENST00000650667.1:c.*48G>A ENSP00000498593.1:n.*48G>A
XM_011544639.1:c.434G>A XP_011542941.1:p.Trp145Ter
XM_011544639.3:c.434G>A XP_011542941.1:p.Trp145Ter
XM_024447265.1:c.224G>A XP_024303033.1:p.Trp75Ter
XR_949470.1:n.707G>A
XR_949470.3:n.735G>A
XR_949471.1:n.707G>A
XR_949471.3:n.735G>A
XR_949472.1:n.707G>A
XR_949472.3:n.735G>A