Canonical Allele Identifier: CA4704255
Community Standard Title: NM_000553.6(WRN):c.1145A>G (p.Lys382Arg)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31081172A>G , CM000670.2:g.31081172A>G GRCh38
NC_000008.10:g.30938688A>G , CM000670.1:g.30938688A>G GRCh37
NC_000008.9:g.31058230A>G NCBI36
NG_008870.1:g.52911A>G , LRG_524:g.52911A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1145A>G MANE Select NP_000544.2:p.Lys382Arg
ENST00000298139.7:c.1145A>G MANE Select ENSP00000298139.5:p.Lys382Arg
NM_000553.4:c.1145A>G , LRG_524t1:c.1145A>G NP_000544.2:p.Lys382Arg
NM_000553.5:c.1145A>G NP_000544.2:p.Lys382Arg
ENST00000298139.5:c.1145A>G ENSP00000298139.5:p.Lys382Arg
ENST00000650667.1:c.*759A>G ENSP00000498593.1:n.*759A>G
ENST00000651642.1:c.440A>G ENSP00000498779.1:p.Lys147Arg
XM_011544639.1:c.1145A>G XP_011542941.1:p.Lys382Arg
XM_011544639.3:c.1145A>G XP_011542941.1:p.Lys382Arg
XM_024447265.1:c.935A>G XP_024303033.1:p.Lys312Arg
XR_949470.1:n.1418A>G
XR_949470.3:n.1446A>G
XR_949471.1:n.1418A>G
XR_949471.3:n.1446A>G
XR_949472.1:n.1418A>G
XR_949472.3:n.1446A>G