Canonical Allele Identifier: CA3253388

Gene: OXCT1

Linked Data

• ClinVar Variation Id: 353659
• ClinVar RCV Id: RCV000318300
• dbSNP Id: rs202242762
• ExAC: 5:41801122 A / G
• gnomAD v2: 5-41801122-A-G
• gnomAD v3: 5-41801020-A-G
• gnomAD v4: 5-41801020-A-G
• MyVariant Identifiers: chr5:g.41801122A>G (hg19) ; chr5:g.41801020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41801020A>G , CM000667.2:g.41801020A>G	GRCh38
NC_000005.9:g.41801122A>G , CM000667.1:g.41801122A>G	GRCh37
NC_000005.8:g.41836879A>G	NCBI36
NG_011823.1:g.74670T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.1099+2T>C MANE Select	ENSP00000196371.5:n.1099+2T>C
ENST00000196371.9:c.1099+2T>C	ENSP00000196371.5:n.1099+2T>C
ENST00000509987.1:c.541+2T>C	ENSP00000425348.1:n.541+2T>C
ENST00000514723.1:n.145-38820T>C
NM_000436.3:c.1099+2T>C	NP_000427.1:n.1099+2T>C
XR_427658.2:n.1275+2T>C
NM_001364299.1:c.1120+2T>C	NP_001351228.1:n.1120+2T>C
NM_001364300.1:c.1120+2T>C	NP_001351229.1:n.1120+2T>C
NM_001364301.1:c.1093+2T>C	NP_001351230.1:n.1093+2T>C
NM_001364302.1:c.1099+2T>C	NP_001351231.1:n.1099+2T>C
NM_001364303.1:c.541+2T>C	NP_001351232.1:n.541+2T>C
NR_157114.1:n.1166+2T>C
XR_001742081.2:n.1276+2T>C
NM_000436.4:c.1099+2T>C MANE Select	NP_000427.1:n.1099+2T>C
NM_001364299.2:c.1120+2T>C	NP_001351228.1:n.1120+2T>C
NM_001364300.2:c.1120+2T>C	NP_001351229.1:n.1120+2T>C
NM_001364301.2:c.1093+2T>C	NP_001351230.1:n.1093+2T>C
NM_001364302.2:c.1099+2T>C	NP_001351231.1:n.1099+2T>C
NR_157114.2:n.1166+2T>C
NM_001364303.2:c.541+2T>C	NP_001351232.1:n.541+2T>C