Canonical Allele Identifier: CA4704665
Community Standard Title: NM_000553.6(WRN):c.2185G>A (p.Gly729Ser)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111711G>A , CM000670.2:g.31111711G>A GRCh38
NC_000008.10:g.30969227G>A , CM000670.1:g.30969227G>A GRCh37
NC_000008.9:g.31088769G>A NCBI36
NG_008870.1:g.83450G>A , LRG_524:g.83450G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2185G>A MANE Select NP_000544.2:p.Gly729Ser
ENST00000298139.7:c.2185G>A MANE Select ENSP00000298139.5:p.Gly729Ser
NM_000553.4:c.2185G>A , LRG_524t1:c.2185G>A NP_000544.2:p.Gly729Ser
NM_000553.5:c.2185G>A NP_000544.2:p.Gly729Ser
ENST00000298139.5:c.2185G>A ENSP00000298139.5:p.Gly729Ser
ENST00000521620.5:n.818G>A
ENST00000650667.1:c.*1799G>A ENSP00000498593.1:n.*1799G>A
XM_011544639.1:c.2104G>A XP_011542941.1:p.Gly702Ser
XM_011544639.3:c.2104G>A XP_011542941.1:p.Gly702Ser
XM_011544640.1:c.586G>A XP_011542942.1:p.Gly196Ser
XM_024447265.1:c.1975G>A XP_024303033.1:p.Gly659Ser
XR_949470.1:n.2458G>A
XR_949470.3:n.2486G>A
XR_949471.1:n.2458G>A
XR_949471.3:n.2486G>A
XR_949472.1:n.2458G>A
XR_949472.3:n.2486G>A