Canonical Allele Identifier: CA146169

Gene: OXCT1

Linked Data

• ClinVar Variation Id: 93004
• ClinVar RCV Id: RCV000078819 ; RCV000340878 ; RCV000676889
• dbSNP Id: rs7723992
• ExAC: 5:41853514 T / G
• gnomAD v2: 5-41853514-T-G
• gnomAD v3: 5-41853412-T-G
• gnomAD v4: 5-41853412-T-G
• MyVariant Identifiers: chr5:g.41853514T>G (hg19) ; chr5:g.41853412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853412T>G , CM000667.2:g.41853412T>G	GRCh38
NC_000005.9:g.41853514T>G , CM000667.1:g.41853514T>G	GRCh37
NC_000005.8:g.41889271T>G	NCBI36
NG_011823.1:g.22278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.414+7A>C MANE Select	ENSP00000196371.5:n.414+7A>C
ENST00000196371.9:c.414+7A>C	ENSP00000196371.5:n.414+7A>C
NM_000436.3:c.414+7A>C	NP_000427.1:n.414+7A>C
XR_427658.2:n.590+7A>C
NM_001364299.1:c.414+7A>C	NP_001351228.1:n.414+7A>C
NM_001364300.1:c.435+7A>C	NP_001351229.1:n.435+7A>C
NM_001364301.1:c.414+7A>C	NP_001351230.1:n.414+7A>C
NM_001364302.1:c.414+7A>C	NP_001351231.1:n.414+7A>C
NR_157114.1:n.481+7A>C
XR_001742081.2:n.591+7A>C
NM_000436.4:c.414+7A>C MANE Select	NP_000427.1:n.414+7A>C
NM_001364299.2:c.414+7A>C	NP_001351228.1:n.414+7A>C
NM_001364300.2:c.435+7A>C	NP_001351229.1:n.435+7A>C
NM_001364301.2:c.414+7A>C	NP_001351230.1:n.414+7A>C
NM_001364302.2:c.414+7A>C	NP_001351231.1:n.414+7A>C
NR_157114.2:n.481+7A>C