Canonical Allele Identifier: CA370916385
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1158574965
gnomAD v2: 8-30924681-G-A
gnomAD v4: 8-31067165-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067165G>A , CM000670.2:g.31067165G>A GRCh38
NC_000008.10:g.30924681G>A , CM000670.1:g.30924681G>A GRCh37
NC_000008.9:g.31044223G>A NCBI36
NG_008870.1:g.38904G>A , LRG_524:g.38904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.637G>A MANE Select ENSP00000298139.5:p.Ala213Thr
ENST00000650667.1:c.*251G>A ENSP00000498593.1:n.*251G>A
ENST00000298139.5:c.637G>A ENSP00000298139.5:p.Ala213Thr
NM_000553.4:c.637G>A , LRG_524t1:c.637G>A NP_000544.2:p.Ala213Thr
XM_011544639.1:c.637G>A XP_011542941.1:p.Ala213Thr
XR_949470.1:n.910G>A
XR_949471.1:n.910G>A
XR_949472.1:n.910G>A
NM_000553.5:c.637G>A NP_000544.2:p.Ala213Thr
XM_011544639.3:c.637G>A XP_011542941.1:p.Ala213Thr
XM_024447265.1:c.427G>A XP_024303033.1:p.Ala143Thr
XR_949470.3:n.938G>A
XR_949471.3:n.938G>A
XR_949472.3:n.938G>A
NM_000553.6:c.637G>A MANE Select NP_000544.2:p.Ala213Thr