Canonical Allele Identifier: CA119337
Gene: OXCT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8163
ClinVar RCV Id: RCV000008641
dbSNP Id: rs121909299
gnomAD v2: 5-41805776-G-C
gnomAD v4: 5-41805674-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41805674G>C , CM000667.2:g.41805674G>C GRCh38
NC_000005.9:g.41805776G>C , CM000667.1:g.41805776G>C GRCh37
NC_000005.8:g.41841533G>C NCBI36
NG_011823.1:g.70016C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000196371.10:c.848C>G MANE Select ENSP00000196371.5:p.Ser283Ter
ENST00000196371.9:c.848C>G ENSP00000196371.5:p.Ser283Ter
ENST00000509987.1:c.290C>G ENSP00000425348.1:p.Ser97Ter
ENST00000514723.1:n.144+34777C>G
NM_000436.3:c.848C>G NP_000427.1:p.Ser283Ter
XR_427658.2:n.1024C>G
NM_001364299.1:c.869C>G NP_001351228.1:p.Ser290Ter
NM_001364300.1:c.869C>G NP_001351229.1:p.Ser290Ter
NM_001364301.1:c.842C>G NP_001351230.1:p.Ser281Ter
NM_001364302.1:c.848C>G NP_001351231.1:p.Ser283Ter
NM_001364303.1:c.290C>G NP_001351232.1:p.Ser97Ter
NR_157114.1:n.915C>G
XR_001742081.2:n.1025C>G
NM_000436.4:c.848C>G MANE Select NP_000427.1:p.Ser283Ter
NM_001364299.2:c.869C>G NP_001351228.1:p.Ser290Ter
NM_001364300.2:c.869C>G NP_001351229.1:p.Ser290Ter
NM_001364301.2:c.842C>G NP_001351230.1:p.Ser281Ter
NM_001364302.2:c.848C>G NP_001351231.1:p.Ser283Ter
NR_157114.2:n.915C>G
NM_001364303.2:c.290C>G NP_001351232.1:p.Ser97Ter