Canonical Allele Identifier: CA370919983

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31080971T>A , CM000670.2:g.31080971T>A	GRCh38
NC_000008.10:g.30938487T>A , CM000670.1:g.30938487T>A	GRCh37
NC_000008.9:g.31058029T>A	NCBI36
NG_008870.1:g.52710T>A , LRG_524:g.52710T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000553.6:c.944T>A MANE Select	NP_000544.2:p.Leu315Ter
ENST00000298139.7:c.944T>A MANE Select	ENSP00000298139.5:p.Leu315Ter
NM_000553.4:c.944T>A , LRG_524t1:c.944T>A	NP_000544.2:p.Leu315Ter
NM_000553.5:c.944T>A	NP_000544.2:p.Leu315Ter
ENST00000298139.5:c.944T>A	ENSP00000298139.5:p.Leu315Ter
ENST00000650667.1:c.*558T>A	ENSP00000498593.1:n.*558T>A
ENST00000651642.1:c.239T>A	ENSP00000498779.1:p.Leu80Ter
XM_011544639.1:c.944T>A	XP_011542941.1:p.Leu315Ter
XM_011544639.3:c.944T>A	XP_011542941.1:p.Leu315Ter
XM_024447265.1:c.734T>A	XP_024303033.1:p.Leu245Ter
XR_949470.1:n.1217T>A
XR_949470.3:n.1245T>A
XR_949471.1:n.1217T>A
XR_949471.3:n.1245T>A
XR_949472.1:n.1217T>A
XR_949472.3:n.1245T>A