Canonical Allele Identifier: CA386814254
Gene: OAS1 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112931878G>C , CM000674.2:g.112931878G>C GRCh38
NC_000012.11:g.113369683G>C , CM000674.1:g.113369683G>C GRCh37
NC_000012.10:g.111854066G>C NCBI36
NG_011530.2:g.29945G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000540589.3:c.1168G>C ENSP00000474083.2:p.Val390Leu
ENST00000551241.6:c.1039G>C ENSP00000448790.1:p.Val347Leu
ENST00000552526.2:c.1083G>C ENSP00000475139.2:p.Arg361Ser
ENST00000540589.2:c.131G>C
ENST00000551241.5:c.1039G>C ENSP00000448790.1:p.Val347Leu
ENST00000552526.1:c.45G>C ENSP00000475139.1:p.Arg15Ser
XM_011538414.1:c.1039G>C XP_011536716.1:p.Val347Leu
NM_001320151.1:c.1039G>C NP_001307080.1:p.Val347Leu
NM_001320151.2:c.1039G>C NP_001307080.1:p.Val347Leu