Canonical Allele Identifier: CA4704167
Community Standard Title: NM_000553.6(WRN):c.830A>C (p.Asn277Thr)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31076278A>C , CM000670.2:g.31076278A>C GRCh38
NC_000008.10:g.30933794A>C , CM000670.1:g.30933794A>C GRCh37
NC_000008.9:g.31053336A>C NCBI36
NG_008870.1:g.48017A>C , LRG_524:g.48017A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.830A>C MANE Select NP_000544.2:p.Asn277Thr
ENST00000298139.7:c.830A>C MANE Select ENSP00000298139.5:p.Asn277Thr
NM_000553.4:c.830A>C , LRG_524t1:c.830A>C NP_000544.2:p.Asn277Thr
NM_000553.5:c.830A>C NP_000544.2:p.Asn277Thr
ENST00000298139.5:c.830A>C ENSP00000298139.5:p.Asn277Thr
ENST00000650667.1:c.*444A>C ENSP00000498593.1:n.*444A>C
ENST00000651642.1:c.125A>C ENSP00000498779.1:p.Asn42Thr
XM_011544639.1:c.830A>C XP_011542941.1:p.Asn277Thr
XM_011544639.3:c.830A>C XP_011542941.1:p.Asn277Thr
XM_024447265.1:c.620A>C XP_024303033.1:p.Asn207Thr
XR_949470.1:n.1103A>C
XR_949470.3:n.1131A>C
XR_949471.1:n.1103A>C
XR_949471.3:n.1131A>C
XR_949472.1:n.1103A>C
XR_949472.3:n.1131A>C