Canonical Allele Identifier: CA359626645

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41807368C>T , CM000667.2:g.41807368C>T	GRCh38
NC_000005.9:g.41807470C>T , CM000667.1:g.41807470C>T	GRCh37
NC_000005.8:g.41843227C>T	NCBI36
NG_011823.1:g.68322G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.803G>A MANE Select	NP_000427.1:p.Arg268His
ENST00000196371.10:c.803G>A MANE Select	ENSP00000196371.5:p.Arg268His
NM_000436.3:c.803G>A	NP_000427.1:p.Arg268His
NM_001364299.1:c.824G>A	NP_001351228.1:p.Arg275His
NM_001364299.2:c.824G>A	NP_001351228.1:p.Arg275His
NM_001364300.1:c.824G>A	NP_001351229.1:p.Arg275His
NM_001364300.2:c.824G>A	NP_001351229.1:p.Arg275His
NM_001364301.1:c.797G>A	NP_001351230.1:p.Arg266His
NM_001364301.2:c.797G>A	NP_001351230.1:p.Arg266His
NM_001364302.1:c.803G>A	NP_001351231.1:p.Arg268His
NM_001364302.2:c.803G>A	NP_001351231.1:p.Arg268His
NM_001364303.1:c.245G>A	NP_001351232.1:p.Arg82His
NM_001364303.2:c.245G>A	NP_001351232.1:p.Arg82His
NR_157114.1:n.870G>A
NR_157114.2:n.870G>A
ENST00000196371.9:c.803G>A	ENSP00000196371.5:p.Arg268His
ENST00000509987.1:c.245G>A	ENSP00000425348.1:p.Arg82His
ENST00000514723.1:n.144+33083G>A
XR_001742081.2:n.980G>A
XR_427658.2:n.979G>A