Canonical Allele Identifier: CA370923538
Community Standard Title: NM_000553.6(WRN):c.3309+1G>T
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31142702G>T , CM000670.2:g.31142702G>T GRCh38
NC_000008.10:g.31000218G>T , CM000670.1:g.31000218G>T GRCh37
NC_000008.9:g.31119760G>T NCBI36
NG_008870.1:g.114441G>T , LRG_524:g.114441G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3309+1G>T MANE Select NP_000544.2:n.3309+1G>T
ENST00000298139.7:c.3309+1G>T MANE Select ENSP00000298139.5:n.3309+1G>T
NM_000553.4:c.3309+1G>T , LRG_524t1:c.3309+1G>T NP_000544.2:n.3309+1G>T
NM_000553.5:c.3309+1G>T NP_000544.2:n.3309+1G>T
ENST00000298139.5:c.3309+1G>T ENSP00000298139.5:n.3309+1G>T
ENST00000521620.5:n.1942+1G>T
ENST00000650667.1:c.*2923+1G>T ENSP00000498593.1:n.*2923+1G>T
XM_011544639.1:c.3228+1G>T XP_011542941.1:n.3228+1G>T
XM_011544639.3:c.3228+1G>T XP_011542941.1:n.3228+1G>T
XM_011544640.1:c.1710+1G>T XP_011542942.1:n.1710+1G>T
XM_024447265.1:c.3099+1G>T XP_024303033.1:n.3099+1G>T
XR_949470.1:n.3582+1G>T
XR_949470.3:n.3610+1G>T
XR_949471.1:n.3582+1G>T
XR_949471.3:n.3610+1G>T
XR_949472.1:n.3582+1G>T
XR_949472.3:n.3610+1G>T