Canonical Allele Identifier: CA3253320

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41762198C>T , CM000667.2:g.41762198C>T	GRCh38
NC_000005.9:g.41762300C>T , CM000667.1:g.41762300C>T	GRCh37
NC_000005.8:g.41798057C>T	NCBI36
NG_011823.1:g.113492G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.1251G>A MANE Select	NP_000427.1:p.Gly417=
ENST00000196371.10:c.1251G>A MANE Select	ENSP00000196371.5:p.Gly417=
NM_000436.3:c.1251G>A	NP_000427.1:p.Gly417=
NM_001364299.1:c.1272G>A	NP_001351228.1:p.Gly424=
NM_001364299.2:c.1272G>A	NP_001351228.1:p.Gly424=
NM_001364300.1:c.1272G>A	NP_001351229.1:p.Gly424=
NM_001364300.2:c.1272G>A	NP_001351229.1:p.Gly424=
NM_001364301.1:c.1245G>A	NP_001351230.1:p.Gly415=
NM_001364301.2:c.1245G>A	NP_001351230.1:p.Gly415=
NM_001364302.1:c.1249-12591G>A	NP_001351231.1:n.1249-12591G>A
NM_001364302.2:c.1249-12591G>A	NP_001351231.1:n.1249-12591G>A
NM_001364303.1:c.693G>A	NP_001351232.1:p.Gly231=
NM_001364303.2:c.693G>A	NP_001351232.1:p.Gly231=
NR_157114.1:n.1245G>A
NR_157114.2:n.1245G>A
ENST00000196371.9:c.1251G>A	ENSP00000196371.5:p.Gly417=
ENST00000508557.5:n.136G>A
ENST00000509987.1:c.693G>A	ENSP00000425348.1:p.Gly231=
ENST00000510634.5:c.60G>A	ENSP00000423144.1:p.Gly20=
ENST00000512084.5:c.60G>A	ENSP00000421143.1:p.Gly20=
ENST00000513081.5:n.182G>A
ENST00000514723.1:n.147G>A
XR_001742081.2:n.1353-12591G>A
XR_427658.2:n.1354G>A