Canonical Allele Identifier: CA386950874

Gene: OASL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121020880C>G , CM000674.2:g.121020880C>G	GRCh38
NC_000012.11:g.121458683C>G , CM000674.1:g.121458683C>G	GRCh37
NC_000012.10:g.119943066C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257570.10:c.1226G>C MANE Select	ENSP00000257570.4:p.Ser409Thr
ENST00000339275.10:c.*216G>C	ENSP00000341125.5:n.*216G>C
ENST00000620239.5:c.836G>C	ENSP00000479512.1:p.Ser279Thr
ENST00000679655.1:c.*105G>C	ENSP00000506490.1:n.*105G>C
ENST00000680485.1:c.*458G>C	ENSP00000506721.1:n.*458G>C
ENST00000680620.1:c.1048-1850G>C	ENSP00000505685.1:n.1048-1850G>C
ENST00000680750.1:n.1770G>C
ENST00000681005.1:n.832G>C
ENST00000681590.1:c.*700G>C	ENSP00000506074.1:n.*700G>C
ENST00000257570.9:c.1226G>C	ENSP00000257570.4:p.Ser409Thr
ENST00000339275.9:c.*216G>C	ENSP00000341125.5:n.*216G>C
ENST00000620239.4:c.836G>C	ENSP00000479512.1:p.Ser279Thr
NM_001261825.1:c.836G>C	NP_001248754.1:p.Ser279Thr
NM_003733.3:c.1226G>C	NP_003724.1:p.Ser409Thr
NM_198213.2:c.*216G>C	NP_937856.1:n.*216G>C
XM_017020140.1:c.1048-1850G>C	XP_016875629.1:n.1048-1850G>C
XM_017020141.1:c.*38-1850G>C	XP_016875630.1:n.*38-1850G>C
NM_001261825.2:c.836G>C	NP_001248754.1:p.Ser279Thr
NM_001395418.1:c.*38-1850G>C	NP_001382347.1:n.*38-1850G>C
NM_001395419.1:c.1048-1850G>C	NP_001382348.1:n.1048-1850G>C
NM_003733.4:c.1226G>C MANE Select	NP_003724.1:p.Ser409Thr
NM_198213.3:c.*216G>C	NP_937856.1:n.*216G>C