Canonical Allele Identifier: CA359627884
Community Standard Title: NM_000436.4(OXCT1):c.193G>C (p.Gly65Arg)
Gene: OXCT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41861399C>G , CM000667.2:g.41861399C>G GRCh38
NC_000005.9:g.41861501C>G , CM000667.1:g.41861501C>G GRCh37
NC_000005.8:g.41897258C>G NCBI36
NG_011823.1:g.14291G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000436.4:c.193G>C MANE Select NP_000427.1:p.Gly65Arg
ENST00000196371.10:c.193G>C MANE Select ENSP00000196371.5:p.Gly65Arg
NM_000436.3:c.193G>C NP_000427.1:p.Gly65Arg
NM_001364299.1:c.193G>C NP_001351228.1:p.Gly65Arg
NM_001364299.2:c.193G>C NP_001351228.1:p.Gly65Arg
NM_001364300.1:c.214G>C NP_001351229.1:p.Gly72Arg
NM_001364300.2:c.214G>C NP_001351229.1:p.Gly72Arg
NM_001364301.1:c.193G>C NP_001351230.1:p.Gly65Arg
NM_001364301.2:c.193G>C NP_001351230.1:p.Gly65Arg
NM_001364302.1:c.193G>C NP_001351231.1:p.Gly65Arg
NM_001364302.2:c.193G>C NP_001351231.1:p.Gly65Arg
NR_157114.1:n.260G>C
NR_157114.2:n.260G>C
ENST00000196371.9:c.193G>C ENSP00000196371.5:p.Gly65Arg
XR_001742081.2:n.370G>C
XR_427658.2:n.369G>C