Canonical Allele Identifier: CA370916404
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067171A>C , CM000670.2:g.31067171A>C GRCh38
NC_000008.10:g.30924687A>C , CM000670.1:g.30924687A>C GRCh37
NC_000008.9:g.31044229A>C NCBI36
NG_008870.1:g.38910A>C , LRG_524:g.38910A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.643A>C MANE Select ENSP00000298139.5:p.Thr215Pro
ENST00000650667.1:c.*257A>C ENSP00000498593.1:n.*257A>C
ENST00000298139.5:c.643A>C ENSP00000298139.5:p.Thr215Pro
NM_000553.4:c.643A>C , LRG_524t1:c.643A>C NP_000544.2:p.Thr215Pro
XM_011544639.1:c.643A>C XP_011542941.1:p.Thr215Pro
XR_949470.1:n.916A>C
XR_949471.1:n.916A>C
XR_949472.1:n.916A>C
NM_000553.5:c.643A>C NP_000544.2:p.Thr215Pro
XM_011544639.3:c.643A>C XP_011542941.1:p.Thr215Pro
XM_024447265.1:c.433A>C XP_024303033.1:p.Thr145Pro
XR_949470.3:n.944A>C
XR_949471.3:n.944A>C
XR_949472.3:n.944A>C
NM_000553.6:c.643A>C MANE Select NP_000544.2:p.Thr215Pro