Canonical Allele Identifier: CA174868321
Community Standard Title: NM_000553.6(WRN):c.2088+121A>T
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31101076A>T , CM000670.2:g.31101076A>T GRCh38
NC_000008.10:g.30958592A>T , CM000670.1:g.30958592A>T GRCh37
NC_000008.9:g.31078134A>T NCBI36
NG_008870.1:g.72815A>T , LRG_524:g.72815A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2088+121A>T MANE Select NP_000544.2:n.2088+121A>T
ENST00000298139.7:c.2088+121A>T MANE Select ENSP00000298139.5:n.2088+121A>T
NM_000553.4:c.2088+121A>T , LRG_524t1:c.2088+121A>T NP_000544.2:n.2088+121A>T
NM_000553.5:c.2088+121A>T NP_000544.2:n.2088+121A>T
ENST00000298139.5:c.2088+121A>T ENSP00000298139.5:n.2088+121A>T
ENST00000521620.5:n.721+121A>T
ENST00000650667.1:c.*1702+121A>T ENSP00000498593.1:n.*1702+121A>T
XM_011544639.1:c.2007+121A>T XP_011542941.1:n.2007+121A>T
XM_011544639.3:c.2007+121A>T XP_011542941.1:n.2007+121A>T
XM_011544640.1:c.489+121A>T XP_011542942.1:n.489+121A>T
XM_024447265.1:c.1878+121A>T XP_024303033.1:n.1878+121A>T
XR_949470.1:n.2361+121A>T
XR_949470.3:n.2389+121A>T
XR_949471.1:n.2361+121A>T
XR_949471.3:n.2389+121A>T
XR_949472.1:n.2361+121A>T
XR_949472.3:n.2389+121A>T