Canonical Allele Identifier: CA359627509

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41861313C>T , CM000667.2:g.41861313C>T	GRCh38
NC_000005.9:g.41861415C>T , CM000667.1:g.41861415C>T	GRCh37
NC_000005.8:g.41897172C>T	NCBI36
NG_011823.1:g.14377G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000436.4:c.278+1G>A MANE Select	NP_000427.1:n.278+1G>A
ENST00000196371.10:c.278+1G>A MANE Select	ENSP00000196371.5:n.278+1G>A
NM_000436.3:c.278+1G>A	NP_000427.1:n.278+1G>A
NM_001364299.1:c.278+1G>A	NP_001351228.1:n.278+1G>A
NM_001364299.2:c.278+1G>A	NP_001351228.1:n.278+1G>A
NM_001364300.1:c.299+1G>A	NP_001351229.1:n.299+1G>A
NM_001364300.2:c.299+1G>A	NP_001351229.1:n.299+1G>A
NM_001364301.1:c.278+1G>A	NP_001351230.1:n.278+1G>A
NM_001364301.2:c.278+1G>A	NP_001351230.1:n.278+1G>A
NM_001364302.1:c.278+1G>A	NP_001351231.1:n.278+1G>A
NM_001364302.2:c.278+1G>A	NP_001351231.1:n.278+1G>A
NR_157114.1:n.345+1G>A
NR_157114.2:n.345+1G>A
ENST00000196371.9:c.278+1G>A	ENSP00000196371.5:n.278+1G>A
XR_001742081.2:n.455+1G>A
XR_427658.2:n.454+1G>A