Canonical Allele Identifier: CA029470
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.[31064934A>T;31064962A>G] , CM000670.2:g.[31064934A>T;31064962A>G] GRCh38
NC_000008.10:g.[30922450A>T;30922478A>G] , CM000670.1:g.[30922450A>T;30922478A>G] GRCh37
NC_000008.9:g.[31041992A>T;31042020A>G] NCBI36
NG_008870.1:g.[36673A>T;36701A>G] , LRG_524:g.[36673A>T;36701A>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.[375A>T;403A>G] MANE Select ENSP00000298139.5:p.[Lys125Asn;Lys135Glu]
ENST00000650667.1:c.[229A>T;*17A>G] ENSP00000498593.1:[p.Asn77Tyr;n.*17A>G]
ENST00000298139.5:c.[375A>T;403A>G] ENSP00000298139.5:p.[Lys125Asn;Lys135Glu]
NM_000553.4:c.[375A>T;403A>G] , LRG_524t1:c.[375A>T;403A>G] NP_000544.2:p.[Lys125Asn;Lys135Glu]
XM_011544639.1:c.[375A>T;403A>G] XP_011542941.1:p.[Lys125Asn;Lys135Glu]
XR_949470.1:n.[648A>T;676A>G]
XR_949471.1:n.[648A>T;676A>G]
XR_949472.1:n.[648A>T;676A>G]
NM_000553.5:c.[375A>T;403A>G] NP_000544.2:p.[Lys125Asn;Lys135Glu]
XM_011544639.3:c.[375A>T;403A>G] XP_011542941.1:p.[Lys125Asn;Lys135Glu]
XM_024447265.1:c.[165A>T;193A>G] XP_024303033.1:p.[Lys55Asn;Lys65Glu]
XR_949470.3:n.[676A>T;704A>G]
XR_949471.3:n.[676A>T;704A>G]
XR_949472.3:n.[676A>T;704A>G]
NM_000553.6:c.[375A>T;403A>G] MANE Select NP_000544.2:p.[Lys125Asn;Lys135Glu]