Canonical Allele Identifier: CA359626808
Community Standard Title: NM_000436.4(OXCT1):c.733-2A>G
Gene: OXCT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41807440T>C , CM000667.2:g.41807440T>C GRCh38
NC_000005.9:g.41807542T>C , CM000667.1:g.41807542T>C GRCh37
NC_000005.8:g.41843299T>C NCBI36
NG_011823.1:g.68250A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000436.4:c.733-2A>G MANE Select NP_000427.1:n.733-2A>G
ENST00000196371.10:c.733-2A>G MANE Select ENSP00000196371.5:n.733-2A>G
NM_000436.3:c.733-2A>G NP_000427.1:n.733-2A>G
NM_001364299.1:c.754-2A>G NP_001351228.1:n.754-2A>G
NM_001364299.2:c.754-2A>G NP_001351228.1:n.754-2A>G
NM_001364300.1:c.754-2A>G NP_001351229.1:n.754-2A>G
NM_001364300.2:c.754-2A>G NP_001351229.1:n.754-2A>G
NM_001364301.1:c.727-2A>G NP_001351230.1:n.727-2A>G
NM_001364301.2:c.727-2A>G NP_001351230.1:n.727-2A>G
NM_001364302.1:c.733-2A>G NP_001351231.1:n.733-2A>G
NM_001364302.2:c.733-2A>G NP_001351231.1:n.733-2A>G
NM_001364303.1:c.175-2A>G NP_001351232.1:n.175-2A>G
NM_001364303.2:c.175-2A>G NP_001351232.1:n.175-2A>G
NR_157114.1:n.800-2A>G
NR_157114.2:n.800-2A>G
ENST00000196371.9:c.733-2A>G ENSP00000196371.5:n.733-2A>G
ENST00000509987.1:c.175-2A>G ENSP00000425348.1:n.175-2A>G
ENST00000514723.1:n.144+33011A>G
XR_001742081.2:n.910-2A>G
XR_427658.2:n.909-2A>G