Canonical Allele Identifier: CA359686007

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41749526C>G , CM000667.2:g.41749526C>G	GRCh38
NC_000005.9:g.41749628C>G , CM000667.1:g.41749628C>G	GRCh37
NC_000005.8:g.41785385C>G	NCBI36
NG_011823.1:g.126164G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.1419+1G>C MANE Select	NP_000427.1:n.1419+1G>C
ENST00000196371.10:c.1419+1G>C MANE Select	ENSP00000196371.5:n.1419+1G>C
NM_000436.3:c.1419+1G>C	NP_000427.1:n.1419+1G>C
NM_001364299.1:c.1440+1G>C	NP_001351228.1:n.1440+1G>C
NM_001364299.2:c.1440+1G>C	NP_001351228.1:n.1440+1G>C
NM_001364300.1:c.1440+1G>C	NP_001351229.1:n.1440+1G>C
NM_001364300.2:c.1440+1G>C	NP_001351229.1:n.1440+1G>C
NM_001364301.1:c.1413+1G>C	NP_001351230.1:n.1413+1G>C
NM_001364301.2:c.1413+1G>C	NP_001351230.1:n.1413+1G>C
NM_001364302.1:c.1329+1G>C	NP_001351231.1:n.1329+1G>C
NM_001364302.2:c.1329+1G>C	NP_001351231.1:n.1329+1G>C
NM_001364303.1:c.861+1G>C	NP_001351232.1:n.861+1G>C
NM_001364303.2:c.861+1G>C	NP_001351232.1:n.861+1G>C
NR_157114.1:n.1413+1G>C
NR_157114.2:n.1413+1G>C
ENST00000196371.9:c.1419+1G>C	ENSP00000196371.5:n.1419+1G>C
ENST00000508557.5:n.304+1G>C
ENST00000509987.1:c.861+1G>C	ENSP00000425348.1:n.861+1G>C
ENST00000510634.5:c.228+1G>C	ENSP00000423144.1:n.228+1G>C
ENST00000512084.5:c.228+1G>C	ENSP00000421143.1:n.228+1G>C
XR_427658.2:n.1522+1G>C