Canonical Allele Identifier: CA1630835145
Community Standard Title: NM_000553.6(WRN):c.340G= (p.Val114=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064419G= , CM000670.2:g.31064419G= GRCh38
NC_000008.10:g.30921935G= , CM000670.1:g.30921935G= GRCh37
NC_000008.9:g.31041477G= NCBI36
NG_008870.1:g.36158G= , LRG_524:g.36158G=

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.340G= MANE Select NP_000544.2:p.Val114=
ENST00000298139.7:c.340G= MANE Select ENSP00000298139.5:p.Val114=
NM_000553.4:c.340G= , LRG_524t1:c.340G= NP_000544.2:p.Val114=
NM_000553.5:c.340G= NP_000544.2:p.Val114=
ENST00000298139.5:c.340G= ENSP00000298139.5:p.Val114=
ENST00000650667.1:c.210-496G= ENSP00000498593.1:n.210-496G=
XM_011544639.1:c.340G= XP_011542941.1:p.Val114=
XM_011544639.3:c.340G= XP_011542941.1:p.Val114=
XM_024447265.1:c.130G= XP_024303033.1:p.Val44=
XR_949470.1:n.613G=
XR_949470.3:n.641G=
XR_949471.1:n.613G=
XR_949471.3:n.641G=
XR_949472.1:n.613G=
XR_949472.3:n.641G=