Canonical Allele Identifier: CA370916428

Gene: WRN

Linked Data

• dbSNP Id: rs2130050860
• MyVariant Identifiers: chr8:g.30924693G>A (hg19) ; chr8:g.31067177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067177G>A , CM000670.2:g.31067177G>A	GRCh38
NC_000008.10:g.30924693G>A , CM000670.1:g.30924693G>A	GRCh37
NC_000008.9:g.31044235G>A	NCBI36
NG_008870.1:g.38916G>A , LRG_524:g.38916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.649G>A MANE Select	ENSP00000298139.5:p.Ala217Thr
ENST00000650667.1:c.*263G>A	ENSP00000498593.1:n.*263G>A
ENST00000298139.5:c.649G>A	ENSP00000298139.5:p.Ala217Thr
NM_000553.4:c.649G>A , LRG_524t1:c.649G>A	NP_000544.2:p.Ala217Thr
XM_011544639.1:c.649G>A	XP_011542941.1:p.Ala217Thr
XR_949470.1:n.922G>A
XR_949471.1:n.922G>A
XR_949472.1:n.922G>A
NM_000553.5:c.649G>A	NP_000544.2:p.Ala217Thr
XM_011544639.3:c.649G>A	XP_011542941.1:p.Ala217Thr
XM_024447265.1:c.439G>A	XP_024303033.1:p.Ala147Thr
XR_949470.3:n.950G>A
XR_949471.3:n.950G>A
XR_949472.3:n.950G>A
NM_000553.6:c.649G>A MANE Select	NP_000544.2:p.Ala217Thr