Canonical Allele Identifier: CA443815690

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41793998C>T , CM000667.2:g.41793998C>T	GRCh38
NC_000005.9:g.41794100C>T , CM000667.1:g.41794100C>T	GRCh37
NC_000005.8:g.41829857C>T	NCBI36
NG_011823.1:g.81692G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.1248+5G>A MANE Select	NP_000427.1:n.1248+5G>A
ENST00000196371.10:c.1248+5G>A MANE Select	ENSP00000196371.5:n.1248+5G>A
NM_000436.3:c.1248+5G>A	NP_000427.1:n.1248+5G>A
NM_001364299.1:c.1269+5G>A	NP_001351228.1:n.1269+5G>A
NM_001364299.2:c.1269+5G>A	NP_001351228.1:n.1269+5G>A
NM_001364300.1:c.1269+5G>A	NP_001351229.1:n.1269+5G>A
NM_001364300.2:c.1269+5G>A	NP_001351229.1:n.1269+5G>A
NM_001364301.1:c.1242+5G>A	NP_001351230.1:n.1242+5G>A
NM_001364301.2:c.1242+5G>A	NP_001351230.1:n.1242+5G>A
NM_001364302.1:c.1248+5G>A	NP_001351231.1:n.1248+5G>A
NM_001364302.2:c.1248+5G>A	NP_001351231.1:n.1248+5G>A
NM_001364303.1:c.690+5G>A	NP_001351232.1:n.690+5G>A
NM_001364303.2:c.690+5G>A	NP_001351232.1:n.690+5G>A
NR_157114.1:n.1242+5G>A
NR_157114.2:n.1242+5G>A
ENST00000196371.9:c.1248+5G>A	ENSP00000196371.5:n.1248+5G>A
ENST00000508557.5:n.133+5G>A
ENST00000509987.1:c.690+5G>A	ENSP00000425348.1:n.690+5G>A
ENST00000510634.5:c.57+5G>A	ENSP00000423144.1:n.57+5G>A
ENST00000512084.5:c.57+5G>A	ENSP00000421143.1:n.57+5G>A
ENST00000513081.5:n.179+5G>A
ENST00000514723.1:n.145-31798G>A
XR_001742081.2:n.1352+5G>A
XR_427658.2:n.1351+5G>A