Canonical Allele Identifier: CA162731

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141440G>A , CM000670.2:g.31141440G>A	GRCh38
NC_000008.10:g.30998956G>A , CM000670.1:g.30998956G>A	GRCh37
NC_000008.9:g.31118498G>A	NCBI36
NG_008870.1:g.113179G>A , LRG_524:g.113179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.2978G>A MANE Select	ENSP00000298139.5:p.Arg993His
ENST00000650667.1:c.*2592G>A	ENSP00000498593.1:n.*2592G>A
ENST00000298139.5:c.2978G>A	ENSP00000298139.5:p.Arg993His
ENST00000521620.5:n.1611G>A
NM_000553.4:c.2978G>A , LRG_524t1:c.2978G>A	NP_000544.2:p.Arg993His
XM_011544639.1:c.2897G>A	XP_011542941.1:p.Arg966His
XM_011544640.1:c.1379G>A	XP_011542942.1:p.Arg460His
XR_949470.1:n.3251G>A
XR_949471.1:n.3251G>A
XR_949472.1:n.3251G>A
NM_000553.5:c.2978G>A	NP_000544.2:p.Arg993His
XM_011544639.3:c.2897G>A	XP_011542941.1:p.Arg966His
XM_024447265.1:c.2768G>A	XP_024303033.1:p.Arg923His
XR_949470.3:n.3279G>A
XR_949471.3:n.3279G>A
XR_949472.3:n.3279G>A
NM_000553.6:c.2978G>A MANE Select	NP_000544.2:p.Arg993His