Canonical Allele Identifier: CA370916099
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067100A>T , CM000670.2:g.31067100A>T GRCh38
NC_000008.10:g.30924616A>T , CM000670.1:g.30924616A>T GRCh37
NC_000008.9:g.31044158A>T NCBI36
NG_008870.1:g.38839A>T , LRG_524:g.38839A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.572A>T MANE Select ENSP00000298139.5:p.Lys191Ile
ENST00000650667.1:c.*186A>T ENSP00000498593.1:n.*186A>T
ENST00000298139.5:c.572A>T ENSP00000298139.5:p.Lys191Ile
NM_000553.4:c.572A>T , LRG_524t1:c.572A>T NP_000544.2:p.Lys191Ile
XM_011544639.1:c.572A>T XP_011542941.1:p.Lys191Ile
XR_949470.1:n.845A>T
XR_949471.1:n.845A>T
XR_949472.1:n.845A>T
NM_000553.5:c.572A>T NP_000544.2:p.Lys191Ile
XM_011544639.3:c.572A>T XP_011542941.1:p.Lys191Ile
XM_024447265.1:c.362A>T XP_024303033.1:p.Lys121Ile
XR_949470.3:n.873A>T
XR_949471.3:n.873A>T
XR_949472.3:n.873A>T
NM_000553.6:c.572A>T MANE Select NP_000544.2:p.Lys191Ile