Canonical Allele Identifier: CA370916249
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067133A>C , CM000670.2:g.31067133A>C GRCh38
NC_000008.10:g.30924649A>C , CM000670.1:g.30924649A>C GRCh37
NC_000008.9:g.31044191A>C NCBI36
NG_008870.1:g.38872A>C , LRG_524:g.38872A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.605A>C MANE Select ENSP00000298139.5:p.Lys202Thr
ENST00000650667.1:c.*219A>C ENSP00000498593.1:n.*219A>C
ENST00000298139.5:c.605A>C ENSP00000298139.5:p.Lys202Thr
NM_000553.4:c.605A>C , LRG_524t1:c.605A>C NP_000544.2:p.Lys202Thr
XM_011544639.1:c.605A>C XP_011542941.1:p.Lys202Thr
XR_949470.1:n.878A>C
XR_949471.1:n.878A>C
XR_949472.1:n.878A>C
NM_000553.5:c.605A>C NP_000544.2:p.Lys202Thr
XM_011544639.3:c.605A>C XP_011542941.1:p.Lys202Thr
XM_024447265.1:c.395A>C XP_024303033.1:p.Lys132Thr
XR_949470.3:n.906A>C
XR_949471.3:n.906A>C
XR_949472.3:n.906A>C
NM_000553.6:c.605A>C MANE Select NP_000544.2:p.Lys202Thr