Canonical Allele Identifier: CA370916180
Gene: WRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067117T>G , CM000670.2:g.31067117T>G GRCh38
NC_000008.10:g.30924633T>G , CM000670.1:g.30924633T>G GRCh37
NC_000008.9:g.31044175T>G NCBI36
NG_008870.1:g.38856T>G , LRG_524:g.38856T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.589T>G MANE Select ENSP00000298139.5:p.Cys197Gly
ENST00000650667.1:c.*203T>G ENSP00000498593.1:n.*203T>G
ENST00000298139.5:c.589T>G ENSP00000298139.5:p.Cys197Gly
NM_000553.4:c.589T>G , LRG_524t1:c.589T>G NP_000544.2:p.Cys197Gly
XM_011544639.1:c.589T>G XP_011542941.1:p.Cys197Gly
XR_949470.1:n.862T>G
XR_949471.1:n.862T>G
XR_949472.1:n.862T>G
NM_000553.5:c.589T>G NP_000544.2:p.Cys197Gly
XM_011544639.3:c.589T>G XP_011542941.1:p.Cys197Gly
XM_024447265.1:c.379T>G XP_024303033.1:p.Cys127Gly
XR_949470.3:n.890T>G
XR_949471.3:n.890T>G
XR_949472.3:n.890T>G
NM_000553.6:c.589T>G MANE Select NP_000544.2:p.Cys197Gly