Canonical Allele Identifier: CA6832813

Gene: OASL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121027736C>G , CM000674.2:g.121027736C>G	GRCh38
NC_000012.11:g.121465539C>G , CM000674.1:g.121465539C>G	GRCh37
NC_000012.10:g.119949922C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257570.10:c.739G>C MANE Select	ENSP00000257570.4:p.Gly247Arg
ENST00000339275.10:c.658-3599G>C	ENSP00000341125.5:n.658-3599G>C
ENST00000543677.2:c.658-3599G>C	ENSP00000444127.2:n.658-3599G>C
ENST00000620239.5:c.657+3706G>C	ENSP00000479512.1:n.657+3706G>C
ENST00000679358.1:c.*132-3599G>C	ENSP00000505125.1:n.*132-3599G>C
ENST00000679655.1:c.739G>C	ENSP00000506490.1:p.Gly247Arg
ENST00000680485.1:c.*132-3599G>C	ENSP00000506721.1:n.*132-3599G>C
ENST00000680620.1:c.739G>C	ENSP00000505685.1:p.Gly247Arg
ENST00000680750.1:n.1283G>C
ENST00000681590.1:c.*213G>C	ENSP00000506074.1:n.*213G>C
ENST00000257570.9:c.739G>C	ENSP00000257570.4:p.Gly247Arg
ENST00000339275.9:c.658-3599G>C	ENSP00000341125.5:n.658-3599G>C
ENST00000543677.1:c.351-3599G>C
ENST00000620239.4:c.657+3706G>C	ENSP00000479512.1:n.657+3706G>C
NM_001261825.1:c.657+3706G>C	NP_001248754.1:n.657+3706G>C
NM_003733.3:c.739G>C	NP_003724.1:p.Gly247Arg
NM_198213.2:c.658-3599G>C	NP_937856.1:n.658-3599G>C
XM_017020140.1:c.739G>C	XP_016875629.1:p.Gly247Arg
XM_017020141.1:c.658-3599G>C	XP_016875630.1:n.658-3599G>C
NM_001261825.2:c.657+3706G>C	NP_001248754.1:n.657+3706G>C
NM_001395418.1:c.658-3599G>C	NP_001382347.1:n.658-3599G>C
NM_001395419.1:c.739G>C	NP_001382348.1:p.Gly247Arg
NM_003733.4:c.739G>C MANE Select	NP_003724.1:p.Gly247Arg
NM_198213.3:c.658-3599G>C	NP_937856.1:n.658-3599G>C