Canonical Allele Identifier: CA4704016
Community Standard Title: NM_000553.6(WRN):c.219A>G (p.Leu73=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064298A>G , CM000670.2:g.31064298A>G GRCh38
NC_000008.10:g.30921814A>G , CM000670.1:g.30921814A>G GRCh37
NC_000008.9:g.31041356A>G NCBI36
NG_008870.1:g.36037A>G , LRG_524:g.36037A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.219A>G MANE Select NP_000544.2:p.Leu73=
ENST00000298139.7:c.219A>G MANE Select ENSP00000298139.5:p.Leu73=
NM_000553.4:c.219A>G , LRG_524t1:c.219A>G NP_000544.2:p.Leu73=
NM_000553.5:c.219A>G NP_000544.2:p.Leu73=
ENST00000298139.5:c.219A>G ENSP00000298139.5:p.Leu73=
ENST00000650667.1:c.210-617A>G ENSP00000498593.1:n.210-617A>G
XM_011544639.1:c.219A>G XP_011542941.1:p.Leu73=
XM_011544639.3:c.219A>G XP_011542941.1:p.Leu73=
XM_024447265.1:c.9A>G XP_024303033.1:p.Leu3=
XR_949470.1:n.492A>G
XR_949470.3:n.520A>G
XR_949471.1:n.492A>G
XR_949471.3:n.520A>G
XR_949472.1:n.492A>G
XR_949472.3:n.520A>G