Canonical Allele Identifier: CA359686217

Gene: OXCT1

Linked Data

• dbSNP Id: rs121909300
• MyVariant Identifiers: chr5:g.41749681C>T (hg19) ; chr5:g.41749579C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.1367G>A MANE Select	ENSP00000196371.5:p.Cys456Tyr
ENST00000196371.9:c.1367G>A	ENSP00000196371.5:p.Cys456Tyr
ENST00000508557.5:n.252G>A
ENST00000509987.1:c.809G>A	ENSP00000425348.1:p.Cys270Tyr
ENST00000510634.5:c.176G>A	ENSP00000423144.1:p.Cys59Tyr
ENST00000512084.5:c.176G>A	ENSP00000421143.1:p.Cys59Tyr
ENST00000513081.5:n.298G>A
NM_000436.3:c.1367G>A	NP_000427.1:p.Cys456Tyr
XR_427658.2:n.1470G>A
NM_001364299.1:c.1388G>A	NP_001351228.1:p.Cys463Tyr
NM_001364300.1:c.1388G>A	NP_001351229.1:p.Cys463Tyr
NM_001364301.1:c.1361G>A	NP_001351230.1:p.Cys454Tyr
NM_001364302.1:c.1277G>A	NP_001351231.1:p.Cys426Tyr
NM_001364303.1:c.809G>A	NP_001351232.1:p.Cys270Tyr
NR_157114.1:n.1361G>A
NM_000436.4:c.1367G>A MANE Select	NP_000427.1:p.Cys456Tyr
NM_001364299.2:c.1388G>A	NP_001351228.1:p.Cys463Tyr
NM_001364300.2:c.1388G>A	NP_001351229.1:p.Cys463Tyr
NM_001364301.2:c.1361G>A	NP_001351230.1:p.Cys454Tyr
NM_001364302.2:c.1277G>A	NP_001351231.1:p.Cys426Tyr
NR_157114.2:n.1361G>A
NM_001364303.2:c.809G>A	NP_001351232.1:p.Cys270Tyr