Canonical Allele Identifier: CA370929264
Community Standard Title: NM_000553.6(WRN):c.3820-2A>C
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157366A>C , CM000670.2:g.31157366A>C GRCh38
NC_000008.10:g.31014882A>C , CM000670.1:g.31014882A>C GRCh37
NC_000008.9:g.31134424A>C NCBI36
NG_008870.1:g.129105A>C , LRG_524:g.129105A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3820-2A>C MANE Select NP_000544.2:n.3820-2A>C
ENST00000298139.7:c.3820-2A>C MANE Select ENSP00000298139.5:n.3820-2A>C
NM_000553.4:c.3820-2A>C , LRG_524t1:c.3820-2A>C NP_000544.2:n.3820-2A>C
NM_000553.5:c.3820-2A>C NP_000544.2:n.3820-2A>C
ENST00000298139.5:c.3820-2A>C ENSP00000298139.5:n.3820-2A>C
ENST00000521620.5:n.2453-2A>C
ENST00000650667.1:c.*3434-2A>C ENSP00000498593.1:n.*3434-2A>C
XM_011544639.1:c.3739-2A>C XP_011542941.1:n.3739-2A>C
XM_011544639.3:c.3739-2A>C XP_011542941.1:n.3739-2A>C
XM_011544640.1:c.2221-2A>C XP_011542942.1:n.2221-2A>C
XM_024447265.1:c.3610-2A>C XP_024303033.1:n.3610-2A>C
XR_949470.1:n.4093-2A>C
XR_949470.3:n.4121-2A>C
XR_949471.1:n.4093-2A>C
XR_949471.3:n.4121-2A>C
XR_949472.1:n.4093-2A>C
XR_949472.3:n.4121-2A>C
XR_949643.1:n.457-8701T>G
XR_949644.1:n.381-8701T>G
XR_949647.1:n.1070-8701T>G
XR_949648.1:n.972-8701T>G