Canonical Allele Identifier: CA4705183
Community Standard Title: NM_000553.6(WRN):c.3819+1G>A
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31154756G>A , CM000670.2:g.31154756G>A GRCh38
NC_000008.10:g.31012272G>A , CM000670.1:g.31012272G>A GRCh37
NC_000008.9:g.31131814G>A NCBI36
NG_008870.1:g.126495G>A , LRG_524:g.126495G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3819+1G>A MANE Select NP_000544.2:n.3819+1G>A
ENST00000298139.7:c.3819+1G>A MANE Select ENSP00000298139.5:n.3819+1G>A
NM_000553.4:c.3819+1G>A , LRG_524t1:c.3819+1G>A NP_000544.2:n.3819+1G>A
NM_000553.5:c.3819+1G>A NP_000544.2:n.3819+1G>A
ENST00000298139.5:c.3819+1G>A ENSP00000298139.5:n.3819+1G>A
ENST00000521620.5:n.2452+1G>A
ENST00000650667.1:c.*3433+1G>A ENSP00000498593.1:n.*3433+1G>A
XM_011544639.1:c.3738+1G>A XP_011542941.1:n.3738+1G>A
XM_011544639.3:c.3738+1G>A XP_011542941.1:n.3738+1G>A
XM_011544640.1:c.2220+1G>A XP_011542942.1:n.2220+1G>A
XM_024447265.1:c.3609+1G>A XP_024303033.1:n.3609+1G>A
XR_949470.1:n.4092+1G>A
XR_949470.3:n.4120+1G>A
XR_949471.1:n.4092+1G>A
XR_949471.3:n.4120+1G>A
XR_949472.1:n.4092+1G>A
XR_949472.3:n.4120+1G>A
XR_949643.1:n.457-6091C>T
XR_949644.1:n.381-6091C>T
XR_949647.1:n.1070-6091C>T
XR_949648.1:n.972-6091C>T