Canonical Allele Identifier: CA370924648

Gene: WRN

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31087874A>C , CM000670.2:g.31087874A>C	GRCh38
NC_000008.10:g.30945390A>C , CM000670.1:g.30945390A>C	GRCh37
NC_000008.9:g.31064932A>C	NCBI36
NG_008870.1:g.59613A>C , LRG_524:g.59613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1530A>C MANE Select	ENSP00000298139.5:p.Glu510Asp
ENST00000650667.1:c.*1144A>C	ENSP00000498593.1:n.*1144A>C
ENST00000298139.5:c.1530A>C	ENSP00000298139.5:p.Glu510Asp
ENST00000521620.5:n.231A>C
NM_000553.4:c.1530A>C , LRG_524t1:c.1530A>C	NP_000544.2:p.Glu510Asp
XM_011544639.1:c.1449A>C	XP_011542941.1:p.Glu483Asp
XM_011544640.1:c.-2A>C	XP_011542942.1:n.-2A>C
XR_949470.1:n.1803A>C
XR_949471.1:n.1803A>C
XR_949472.1:n.1803A>C
NM_000553.5:c.1530A>C	NP_000544.2:p.Glu510Asp
XM_011544639.3:c.1449A>C	XP_011542941.1:p.Glu483Asp
XM_024447265.1:c.1320A>C	XP_024303033.1:p.Glu440Asp
XR_949470.3:n.1831A>C
XR_949471.3:n.1831A>C
XR_949472.3:n.1831A>C
NM_000553.6:c.1530A>C MANE Select	NP_000544.2:p.Glu510Asp