Canonical Allele Identifier: CA370915115
Community Standard Title: NM_000553.6(WRN):c.504+1G>T
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31065064G>T , CM000670.2:g.31065064G>T GRCh38
NC_000008.10:g.30922580G>T , CM000670.1:g.30922580G>T GRCh37
NC_000008.9:g.31042122G>T NCBI36
NG_008870.1:g.36803G>T , LRG_524:g.36803G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.504+1G>T MANE Select NP_000544.2:n.504+1G>T
ENST00000298139.7:c.504+1G>T MANE Select ENSP00000298139.5:n.504+1G>T
NM_000553.4:c.504+1G>T , LRG_524t1:c.504+1G>T NP_000544.2:n.504+1G>T
NM_000553.5:c.504+1G>T NP_000544.2:n.504+1G>T
ENST00000298139.5:c.504+1G>T ENSP00000298139.5:n.504+1G>T
ENST00000650667.1:c.*118+1G>T ENSP00000498593.1:n.*118+1G>T
XM_011544639.1:c.504+1G>T XP_011542941.1:n.504+1G>T
XM_011544639.3:c.504+1G>T XP_011542941.1:n.504+1G>T
XM_024447265.1:c.294+1G>T XP_024303033.1:n.294+1G>T
XR_949470.1:n.777+1G>T
XR_949470.3:n.805+1G>T
XR_949471.1:n.777+1G>T
XR_949471.3:n.805+1G>T
XR_949472.1:n.777+1G>T
XR_949472.3:n.805+1G>T