Canonical Allele Identifier: CA370915894
Community Standard Title: NM_000553.6(WRN):c.2630+1G>A
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31120425G>A , CM000670.2:g.31120425G>A GRCh38
NC_000008.10:g.30977941G>A , CM000670.1:g.30977941G>A GRCh37
NC_000008.9:g.31097483G>A NCBI36
NG_008870.1:g.92164G>A , LRG_524:g.92164G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2630+1G>A MANE Select NP_000544.2:n.2630+1G>A
ENST00000298139.7:c.2630+1G>A MANE Select ENSP00000298139.5:n.2630+1G>A
NM_000553.4:c.2630+1G>A , LRG_524t1:c.2630+1G>A NP_000544.2:n.2630+1G>A
NM_000553.5:c.2630+1G>A NP_000544.2:n.2630+1G>A
ENST00000298139.5:c.2630+1G>A ENSP00000298139.5:n.2630+1G>A
ENST00000520169.1:n.469+1G>A
ENST00000521620.5:n.1263+1G>A
ENST00000650667.1:c.*2244+1G>A ENSP00000498593.1:n.*2244+1G>A
XM_011544639.1:c.2549+1G>A XP_011542941.1:n.2549+1G>A
XM_011544639.3:c.2549+1G>A XP_011542941.1:n.2549+1G>A
XM_011544640.1:c.1031+1G>A XP_011542942.1:n.1031+1G>A
XM_024447265.1:c.2420+1G>A XP_024303033.1:n.2420+1G>A
XR_949470.1:n.2903+1G>A
XR_949470.3:n.2931+1G>A
XR_949471.1:n.2903+1G>A
XR_949471.3:n.2931+1G>A
XR_949472.1:n.2903+1G>A
XR_949472.3:n.2931+1G>A