Canonical Allele Identifier: CA359686347
Community Standard Title: NM_000436.4(OXCT1):c.1339-2A>G
Gene: OXCT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41749609T>C , CM000667.2:g.41749609T>C GRCh38
NC_000005.9:g.41749711T>C , CM000667.1:g.41749711T>C GRCh37
NC_000005.8:g.41785468T>C NCBI36
NG_011823.1:g.126081A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000436.4:c.1339-2A>G MANE Select NP_000427.1:n.1339-2A>G
ENST00000196371.10:c.1339-2A>G MANE Select ENSP00000196371.5:n.1339-2A>G
NM_000436.3:c.1339-2A>G NP_000427.1:n.1339-2A>G
NM_001364299.1:c.1360-2A>G NP_001351228.1:n.1360-2A>G
NM_001364299.2:c.1360-2A>G NP_001351228.1:n.1360-2A>G
NM_001364300.1:c.1360-2A>G NP_001351229.1:n.1360-2A>G
NM_001364300.2:c.1360-2A>G NP_001351229.1:n.1360-2A>G
NM_001364301.1:c.1333-2A>G NP_001351230.1:n.1333-2A>G
NM_001364301.2:c.1333-2A>G NP_001351230.1:n.1333-2A>G
NM_001364302.1:c.1249-2A>G NP_001351231.1:n.1249-2A>G
NM_001364302.2:c.1249-2A>G NP_001351231.1:n.1249-2A>G
NM_001364303.1:c.781-2A>G NP_001351232.1:n.781-2A>G
NM_001364303.2:c.781-2A>G NP_001351232.1:n.781-2A>G
NR_157114.1:n.1333-2A>G
NR_157114.2:n.1333-2A>G
ENST00000196371.9:c.1339-2A>G ENSP00000196371.5:n.1339-2A>G
ENST00000508557.5:n.224-2A>G
ENST00000509987.1:c.781-2A>G ENSP00000425348.1:n.781-2A>G
ENST00000510634.5:c.148-2A>G ENSP00000423144.1:n.148-2A>G
ENST00000512084.5:c.148-2A>G ENSP00000421143.1:n.148-2A>G
ENST00000513081.5:n.270-2A>G
ENST00000514723.1:n.235-2A>G
XR_001742081.2:n.1353-2A>G
XR_427658.2:n.1442-2A>G