Canonical Allele Identifier: CA370926720
Community Standard Title: NM_000553.6(WRN):c.1653-2A>T
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31090463A>T , CM000670.2:g.31090463A>T GRCh38
NC_000008.10:g.30947979A>T , CM000670.1:g.30947979A>T GRCh37
NC_000008.9:g.31067521A>T NCBI36
NG_008870.1:g.62202A>T , LRG_524:g.62202A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1653-2A>T MANE Select NP_000544.2:n.1653-2A>T
ENST00000298139.7:c.1653-2A>T MANE Select ENSP00000298139.5:n.1653-2A>T
NM_000553.4:c.1653-2A>T , LRG_524t1:c.1653-2A>T NP_000544.2:n.1653-2A>T
NM_000553.5:c.1653-2A>T NP_000544.2:n.1653-2A>T
ENST00000298139.5:c.1653-2A>T ENSP00000298139.5:n.1653-2A>T
ENST00000521620.5:n.354-371A>T
ENST00000650667.1:c.*1267-2A>T ENSP00000498593.1:n.*1267-2A>T
XM_011544639.1:c.1572-2A>T XP_011542941.1:n.1572-2A>T
XM_011544639.3:c.1572-2A>T XP_011542941.1:n.1572-2A>T
XM_011544640.1:c.122-371A>T XP_011542942.1:n.122-371A>T
XM_024447265.1:c.1443-2A>T XP_024303033.1:n.1443-2A>T
XR_949470.1:n.1926-2A>T
XR_949470.3:n.1954-2A>T
XR_949471.1:n.1926-2A>T
XR_949471.3:n.1954-2A>T
XR_949472.1:n.1926-2A>T
XR_949472.3:n.1954-2A>T