Canonical Allele Identifier: CA119340

Gene: OXCT1

Linked Data

• ClinVar Variation Id: 8166
• ClinVar RCV Id: RCV000008644 ; RCV001091907
• dbSNP Id: rs121909301
• ExAC: 5:41803250 C / T
• gnomAD v2: 5-41803250-C-T
• gnomAD v3: 5-41803148-C-T
• gnomAD v4: 5-41803148-C-T
• MyVariant Identifiers: chr5:g.41803250C>T (hg19) ; chr5:g.41803148C>T (hg38)
• PubMed: PMID:9392403 ; PMID:10964512

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41803148C>T , CM000667.2:g.41803148C>T	GRCh38
NC_000005.9:g.41803250C>T , CM000667.1:g.41803250C>T	GRCh37
NC_000005.8:g.41839007C>T	NCBI36
NG_011823.1:g.72542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.971G>A MANE Select	ENSP00000196371.5:p.Gly324Glu
ENST00000196371.9:c.971G>A	ENSP00000196371.5:p.Gly324Glu
ENST00000509987.1:c.413G>A	ENSP00000425348.1:p.Gly138Glu
ENST00000514723.1:n.144+37303G>A
NM_000436.3:c.971G>A	NP_000427.1:p.Gly324Glu
XR_427658.2:n.1147G>A
NM_001364299.1:c.992G>A	NP_001351228.1:p.Gly331Glu
NM_001364300.1:c.992G>A	NP_001351229.1:p.Gly331Glu
NM_001364301.1:c.965G>A	NP_001351230.1:p.Gly322Glu
NM_001364302.1:c.971G>A	NP_001351231.1:p.Gly324Glu
NM_001364303.1:c.413G>A	NP_001351232.1:p.Gly138Glu
NR_157114.1:n.1038G>A
XR_001742081.2:n.1148G>A
NM_000436.4:c.971G>A MANE Select	NP_000427.1:p.Gly324Glu
NM_001364299.2:c.992G>A	NP_001351228.1:p.Gly331Glu
NM_001364300.2:c.992G>A	NP_001351229.1:p.Gly331Glu
NM_001364301.2:c.965G>A	NP_001351230.1:p.Gly322Glu
NM_001364302.2:c.971G>A	NP_001351231.1:p.Gly324Glu
NR_157114.2:n.1038G>A
NM_001364303.2:c.413G>A	NP_001351232.1:p.Gly138Glu