Canonical Allele Identifier: CA4704055
Community Standard Title: NM_000553.6(WRN):c.356-2A>C
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064913A>C , CM000670.2:g.31064913A>C GRCh38
NC_000008.10:g.30922429A>C , CM000670.1:g.30922429A>C GRCh37
NC_000008.9:g.31041971A>C NCBI36
NG_008870.1:g.36652A>C , LRG_524:g.36652A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.356-2A>C MANE Select NP_000544.2:n.356-2A>C
ENST00000298139.7:c.356-2A>C MANE Select ENSP00000298139.5:n.356-2A>C
NM_000553.4:c.356-2A>C , LRG_524t1:c.356-2A>C NP_000544.2:n.356-2A>C
NM_000553.5:c.356-2A>C NP_000544.2:n.356-2A>C
ENST00000298139.5:c.356-2A>C ENSP00000298139.5:n.356-2A>C
ENST00000650667.1:c.210-2A>C ENSP00000498593.1:n.210-2A>C
XM_011544639.1:c.356-2A>C XP_011542941.1:n.356-2A>C
XM_011544639.3:c.356-2A>C XP_011542941.1:n.356-2A>C
XM_024447265.1:c.146-2A>C XP_024303033.1:n.146-2A>C
XR_949470.1:n.629-2A>C
XR_949470.3:n.657-2A>C
XR_949471.1:n.629-2A>C
XR_949471.3:n.657-2A>C
XR_949472.1:n.629-2A>C
XR_949472.3:n.657-2A>C