Canonical Allele Identifier: CA119339
Gene: OXCT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8164
ClinVar RCV Id: RCV000008642
dbSNP Id: rs121909300

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41749579C>A , CM000667.2:g.41749579C>A GRCh38
NC_000005.9:g.41749681C>A , CM000667.1:g.41749681C>A GRCh37
NC_000005.8:g.41785438C>A NCBI36
NG_011823.1:g.126111G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196371.10:c.1367G>T MANE Select ENSP00000196371.5:p.Cys456Phe
ENST00000196371.9:c.1367G>T ENSP00000196371.5:p.Cys456Phe
ENST00000508557.5:n.252G>T
ENST00000509987.1:c.809G>T ENSP00000425348.1:p.Cys270Phe
ENST00000510634.5:c.176G>T ENSP00000423144.1:p.Cys59Phe
ENST00000512084.5:c.176G>T ENSP00000421143.1:p.Cys59Phe
ENST00000513081.5:n.298G>T
NM_000436.3:c.1367G>T NP_000427.1:p.Cys456Phe
XR_427658.2:n.1470G>T
NM_001364299.1:c.1388G>T NP_001351228.1:p.Cys463Phe
NM_001364300.1:c.1388G>T NP_001351229.1:p.Cys463Phe
NM_001364301.1:c.1361G>T NP_001351230.1:p.Cys454Phe
NM_001364302.1:c.1277G>T NP_001351231.1:p.Cys426Phe
NM_001364303.1:c.809G>T NP_001351232.1:p.Cys270Phe
NR_157114.1:n.1361G>T
NM_000436.4:c.1367G>T MANE Select NP_000427.1:p.Cys456Phe
NM_001364299.2:c.1388G>T NP_001351228.1:p.Cys463Phe
NM_001364300.2:c.1388G>T NP_001351229.1:p.Cys463Phe
NM_001364301.2:c.1361G>T NP_001351230.1:p.Cys454Phe
NM_001364302.2:c.1277G>T NP_001351231.1:p.Cys426Phe
NR_157114.2:n.1361G>T
NM_001364303.2:c.809G>T NP_001351232.1:p.Cys270Phe