Canonical Allele Identifier: CA370915791
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067033C>A , CM000670.2:g.31067033C>A GRCh38
NC_000008.10:g.30924549C>A , CM000670.1:g.30924549C>A GRCh37
NC_000008.9:g.31044091C>A NCBI36
NG_008870.1:g.38772C>A , LRG_524:g.38772C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.505C>A MANE Select ENSP00000298139.5:p.Leu169Met
ENST00000650667.1:c.*119C>A ENSP00000498593.1:n.*119C>A
ENST00000298139.5:c.505C>A ENSP00000298139.5:p.Leu169Met
NM_000553.4:c.505C>A , LRG_524t1:c.505C>A NP_000544.2:p.Leu169Met
XM_011544639.1:c.505C>A XP_011542941.1:p.Leu169Met
XR_949470.1:n.778C>A
XR_949471.1:n.778C>A
XR_949472.1:n.778C>A
NM_000553.5:c.505C>A NP_000544.2:p.Leu169Met
XM_011544639.3:c.505C>A XP_011542941.1:p.Leu169Met
XM_024447265.1:c.295C>A XP_024303033.1:p.Leu99Met
XR_949470.3:n.806C>A
XR_949471.3:n.806C>A
XR_949472.3:n.806C>A
NM_000553.6:c.505C>A MANE Select NP_000544.2:p.Leu169Met