Canonical Allele Identifier: CA370916217

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924641T>A (hg19) ; chr8:g.31067125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067125T>A , CM000670.2:g.31067125T>A	GRCh38
NC_000008.10:g.30924641T>A , CM000670.1:g.30924641T>A	GRCh37
NC_000008.9:g.31044183T>A	NCBI36
NG_008870.1:g.38864T>A , LRG_524:g.38864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.597T>A MANE Select	ENSP00000298139.5:p.Asn199Lys
ENST00000650667.1:c.*211T>A	ENSP00000498593.1:n.*211T>A
ENST00000298139.5:c.597T>A	ENSP00000298139.5:p.Asn199Lys
NM_000553.4:c.597T>A , LRG_524t1:c.597T>A	NP_000544.2:p.Asn199Lys
XM_011544639.1:c.597T>A	XP_011542941.1:p.Asn199Lys
XR_949470.1:n.870T>A
XR_949471.1:n.870T>A
XR_949472.1:n.870T>A
NM_000553.5:c.597T>A	NP_000544.2:p.Asn199Lys
XM_011544639.3:c.597T>A	XP_011542941.1:p.Asn199Lys
XM_024447265.1:c.387T>A	XP_024303033.1:p.Asn129Lys
XR_949470.3:n.898T>A
XR_949471.3:n.898T>A
XR_949472.3:n.898T>A
NM_000553.6:c.597T>A MANE Select	NP_000544.2:p.Asn199Lys