Canonical Allele Identifier: CA3253544

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41842696C>A , CM000667.2:g.41842696C>A	GRCh38
NC_000005.9:g.41842798C>A , CM000667.1:g.41842798C>A	GRCh37
NC_000005.8:g.41878555C>A	NCBI36
NG_011823.1:g.32994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.650G>T MANE Select	ENSP00000196371.5:p.Arg217Leu
ENST00000196371.9:c.650G>T	ENSP00000196371.5:p.Arg217Leu
ENST00000509987.1:c.92G>T	ENSP00000425348.1:p.Arg31Leu
ENST00000514723.1:n.62G>T
NM_000436.3:c.650G>T	NP_000427.1:p.Arg217Leu
XR_427658.2:n.826G>T
NM_001364299.1:c.671G>T	NP_001351228.1:p.Arg224Leu
NM_001364300.1:c.671G>T	NP_001351229.1:p.Arg224Leu
NM_001364301.1:c.650G>T	NP_001351230.1:p.Arg217Leu
NM_001364302.1:c.650G>T	NP_001351231.1:p.Arg217Leu
NM_001364303.1:c.92G>T	NP_001351232.1:p.Arg31Leu
NR_157114.1:n.717G>T
XR_001742081.2:n.827G>T
NM_000436.4:c.650G>T MANE Select	NP_000427.1:p.Arg217Leu
NM_001364299.2:c.671G>T	NP_001351228.1:p.Arg224Leu
NM_001364300.2:c.671G>T	NP_001351229.1:p.Arg224Leu
NM_001364301.2:c.650G>T	NP_001351230.1:p.Arg217Leu
NM_001364302.2:c.650G>T	NP_001351231.1:p.Arg217Leu
NR_157114.2:n.717G>T
NM_001364303.2:c.92G>T	NP_001351232.1:p.Arg31Leu