Canonical Allele Identifier: CA13761458

Gene: OASL

Linked Data

• dbSNP Id: rs1169279
• gnomAD v2: 12-121455873-C-T
• gnomAD v3: 12-121018070-C-T
• gnomAD v4: 12-121018070-C-T
• MyVariant Identifiers: chr12:g.121455873C>T (hg19) ; chr12:g.121018070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121018070C>T , CM000674.2:g.121018070C>T	GRCh38
NC_000012.11:g.121455873C>T , CM000674.1:g.121455873C>T	GRCh37
NC_000012.10:g.119940256C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000680620.1:c.*907G>A	ENSP00000505685.1:n.*907G>A
NM_001395418.1:c.*998G>A	NP_001382347.1:n.*998G>A
NM_001395419.1:c.*907G>A	NP_001382348.1:n.*907G>A