Canonical Allele Identifier: CA370920694
Community Standard Title: NM_000553.6(WRN):c.1096A>G (p.Lys366Glu)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31081123A>G , CM000670.2:g.31081123A>G GRCh38
NC_000008.10:g.30938639A>G , CM000670.1:g.30938639A>G GRCh37
NC_000008.9:g.31058181A>G NCBI36
NG_008870.1:g.52862A>G , LRG_524:g.52862A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1096A>G MANE Select NP_000544.2:p.Lys366Glu
ENST00000298139.7:c.1096A>G MANE Select ENSP00000298139.5:p.Lys366Glu
NM_000553.4:c.1096A>G , LRG_524t1:c.1096A>G NP_000544.2:p.Lys366Glu
NM_000553.5:c.1096A>G NP_000544.2:p.Lys366Glu
ENST00000298139.5:c.1096A>G ENSP00000298139.5:p.Lys366Glu
ENST00000650667.1:c.*710A>G ENSP00000498593.1:n.*710A>G
ENST00000651642.1:c.391A>G ENSP00000498779.1:p.Lys131Glu
XM_011544639.1:c.1096A>G XP_011542941.1:p.Lys366Glu
XM_011544639.3:c.1096A>G XP_011542941.1:p.Lys366Glu
XM_024447265.1:c.886A>G XP_024303033.1:p.Lys296Glu
XR_949470.1:n.1369A>G
XR_949470.3:n.1397A>G
XR_949471.1:n.1369A>G
XR_949471.3:n.1397A>G
XR_949472.1:n.1369A>G
XR_949472.3:n.1397A>G