Canonical Allele Identifier: CA460228374
Community Standard Title: NM_000553.6(WRN):c.4197A>T (p.Ser1399=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31173000A>T , CM000670.2:g.31173000A>T GRCh38
NC_000008.10:g.31030516A>T , CM000670.1:g.31030516A>T GRCh37
NC_000008.9:g.31150058A>T NCBI36
NG_008870.1:g.144739A>T , LRG_524:g.144739A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.4197A>T MANE Select NP_000544.2:p.Ser1399=
ENST00000298139.7:c.4197A>T MANE Select ENSP00000298139.5:p.Ser1399=
NM_000553.4:c.4197A>T , LRG_524t1:c.4197A>T NP_000544.2:p.Ser1399=
NM_000553.5:c.4197A>T NP_000544.2:p.Ser1399=
ENST00000298139.5:c.4197A>T ENSP00000298139.5:p.Ser1399=
ENST00000521620.5:n.2830A>T
ENST00000650667.1:c.*3811A>T ENSP00000498593.1:n.*3811A>T
ENST00000651946.1:n.421A>T
XM_011544639.1:c.4116A>T XP_011542941.1:p.Ser1372=
XM_011544639.3:c.4116A>T XP_011542941.1:p.Ser1372=
XM_011544640.1:c.2598A>T XP_011542942.1:p.Ser866=
XM_024447265.1:c.3987A>T XP_024303033.1:p.Ser1329=
XR_949643.1:n.88-1682T>A
XR_949644.1:n.88-1682T>A
XR_949645.1:n.88-1682T>A
XR_949646.1:n.88-1682T>A
XR_949647.1:n.701-1682T>A
XR_949648.1:n.603-1682T>A