Canonical Allele Identifier: CA359627939

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41862656-G-C
• MyVariant Identifiers: chr5:g.41862758G>C (hg19) ; chr5:g.41862656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862656G>C , CM000667.2:g.41862656G>C	GRCh38
NC_000005.9:g.41862758G>C , CM000667.1:g.41862758G>C	GRCh37
NC_000005.8:g.41898515G>C	NCBI36
NG_011823.1:g.13034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.173C>G MANE Select	ENSP00000196371.5:p.Thr58Arg
ENST00000196371.9:c.173C>G	ENSP00000196371.5:p.Thr58Arg
NM_000436.3:c.173C>G	NP_000427.1:p.Thr58Arg
XR_427658.2:n.349C>G
NM_001364299.1:c.173C>G	NP_001351228.1:p.Thr58Arg
NM_001364300.1:c.194C>G	NP_001351229.1:p.Thr65Arg
NM_001364301.1:c.173C>G	NP_001351230.1:p.Thr58Arg
NM_001364302.1:c.173C>G	NP_001351231.1:p.Thr58Arg
NR_157114.1:n.240C>G
XR_001742081.2:n.350C>G
NM_000436.4:c.173C>G MANE Select	NP_000427.1:p.Thr58Arg
NM_001364299.2:c.173C>G	NP_001351228.1:p.Thr58Arg
NM_001364300.2:c.194C>G	NP_001351229.1:p.Thr65Arg
NM_001364301.2:c.173C>G	NP_001351230.1:p.Thr58Arg
NM_001364302.2:c.173C>G	NP_001351231.1:p.Thr58Arg
NR_157114.2:n.240C>G