Canonical Allele Identifier: CA370916195
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067120A>C , CM000670.2:g.31067120A>C GRCh38
NC_000008.10:g.30924636A>C , CM000670.1:g.30924636A>C GRCh37
NC_000008.9:g.31044178A>C NCBI36
NG_008870.1:g.38859A>C , LRG_524:g.38859A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.592A>C MANE Select ENSP00000298139.5:p.Ser198Arg
ENST00000650667.1:c.*206A>C ENSP00000498593.1:n.*206A>C
ENST00000298139.5:c.592A>C ENSP00000298139.5:p.Ser198Arg
NM_000553.4:c.592A>C , LRG_524t1:c.592A>C NP_000544.2:p.Ser198Arg
XM_011544639.1:c.592A>C XP_011542941.1:p.Ser198Arg
XR_949470.1:n.865A>C
XR_949471.1:n.865A>C
XR_949472.1:n.865A>C
NM_000553.5:c.592A>C NP_000544.2:p.Ser198Arg
XM_011544639.3:c.592A>C XP_011542941.1:p.Ser198Arg
XM_024447265.1:c.382A>C XP_024303033.1:p.Ser128Arg
XR_949470.3:n.893A>C
XR_949471.3:n.893A>C
XR_949472.3:n.893A>C
NM_000553.6:c.592A>C MANE Select NP_000544.2:p.Ser198Arg