Canonical Allele Identifier: CA4704304
Community Standard Title: NM_000553.6(WRN):c.1296C>T (p.Asn432=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31083725C>T , CM000670.2:g.31083725C>T GRCh38
NC_000008.10:g.30941241C>T , CM000670.1:g.30941241C>T GRCh37
NC_000008.9:g.31060783C>T NCBI36
NG_008870.1:g.55464C>T , LRG_524:g.55464C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1296C>T MANE Select NP_000544.2:p.Asn432=
ENST00000298139.7:c.1296C>T MANE Select ENSP00000298139.5:p.Asn432=
NM_000553.4:c.1296C>T , LRG_524t1:c.1296C>T NP_000544.2:p.Asn432=
NM_000553.5:c.1296C>T NP_000544.2:p.Asn432=
ENST00000298139.5:c.1296C>T ENSP00000298139.5:p.Asn432=
ENST00000650667.1:c.*910C>T ENSP00000498593.1:n.*910C>T
ENST00000651642.1:c.565-1441C>T ENSP00000498779.1:n.565-1441C>T
XM_011544639.1:c.1296C>T XP_011542941.1:p.Asn432=
XM_011544639.3:c.1296C>T XP_011542941.1:p.Asn432=
XM_024447265.1:c.1086C>T XP_024303033.1:p.Asn362=
XR_949470.1:n.1569C>T
XR_949470.3:n.1597C>T
XR_949471.1:n.1569C>T
XR_949471.3:n.1597C>T
XR_949472.1:n.1569C>T
XR_949472.3:n.1597C>T