Canonical Allele Identifier: CA359686079

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41749544G>A , CM000667.2:g.41749544G>A	GRCh38
NC_000005.9:g.41749646G>A , CM000667.1:g.41749646G>A	GRCh37
NC_000005.8:g.41785403G>A	NCBI36
NG_011823.1:g.126146C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.1402C>T MANE Select	NP_000427.1:p.Arg468Cys
ENST00000196371.10:c.1402C>T MANE Select	ENSP00000196371.5:p.Arg468Cys
NM_000436.3:c.1402C>T	NP_000427.1:p.Arg468Cys
NM_001364299.1:c.1423C>T	NP_001351228.1:p.Arg475Cys
NM_001364299.2:c.1423C>T	NP_001351228.1:p.Arg475Cys
NM_001364300.1:c.1423C>T	NP_001351229.1:p.Arg475Cys
NM_001364300.2:c.1423C>T	NP_001351229.1:p.Arg475Cys
NM_001364301.1:c.1396C>T	NP_001351230.1:p.Arg466Cys
NM_001364301.2:c.1396C>T	NP_001351230.1:p.Arg466Cys
NM_001364302.1:c.1312C>T	NP_001351231.1:p.Arg438Cys
NM_001364302.2:c.1312C>T	NP_001351231.1:p.Arg438Cys
NM_001364303.1:c.844C>T	NP_001351232.1:p.Arg282Cys
NM_001364303.2:c.844C>T	NP_001351232.1:p.Arg282Cys
NR_157114.1:n.1396C>T
NR_157114.2:n.1396C>T
ENST00000196371.9:c.1402C>T	ENSP00000196371.5:p.Arg468Cys
ENST00000508557.5:n.287C>T
ENST00000509987.1:c.844C>T	ENSP00000425348.1:p.Arg282Cys
ENST00000510634.5:c.211C>T	ENSP00000423144.1:p.Arg71Cys
ENST00000512084.5:c.211C>T	ENSP00000421143.1:p.Arg71Cys
ENST00000513081.5:n.333C>T
XR_427658.2:n.1505C>T