Canonical Allele Identifier: CA3253291

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41749576G>A , CM000667.2:g.41749576G>A	GRCh38
NC_000005.9:g.41749678G>A , CM000667.1:g.41749678G>A	GRCh37
NC_000005.8:g.41785435G>A	NCBI36
NG_011823.1:g.126114C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.1370C>T MANE Select	NP_000427.1:p.Thr457Ile
ENST00000196371.10:c.1370C>T MANE Select	ENSP00000196371.5:p.Thr457Ile
NM_000436.3:c.1370C>T	NP_000427.1:p.Thr457Ile
NM_001364299.1:c.1391C>T	NP_001351228.1:p.Thr464Ile
NM_001364299.2:c.1391C>T	NP_001351228.1:p.Thr464Ile
NM_001364300.1:c.1391C>T	NP_001351229.1:p.Thr464Ile
NM_001364300.2:c.1391C>T	NP_001351229.1:p.Thr464Ile
NM_001364301.1:c.1364C>T	NP_001351230.1:p.Thr455Ile
NM_001364301.2:c.1364C>T	NP_001351230.1:p.Thr455Ile
NM_001364302.1:c.1280C>T	NP_001351231.1:p.Thr427Ile
NM_001364302.2:c.1280C>T	NP_001351231.1:p.Thr427Ile
NM_001364303.1:c.812C>T	NP_001351232.1:p.Thr271Ile
NM_001364303.2:c.812C>T	NP_001351232.1:p.Thr271Ile
NR_157114.1:n.1364C>T
NR_157114.2:n.1364C>T
ENST00000196371.9:c.1370C>T	ENSP00000196371.5:p.Thr457Ile
ENST00000508557.5:n.255C>T
ENST00000509987.1:c.812C>T	ENSP00000425348.1:p.Thr271Ile
ENST00000510634.5:c.179C>T	ENSP00000423144.1:p.Thr60Ile
ENST00000512084.5:c.179C>T	ENSP00000421143.1:p.Thr60Ile
ENST00000513081.5:n.301C>T
XR_427658.2:n.1473C>T