Canonical Allele Identifier: CA359627930

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862752A>T (hg19) ; chr5:g.41862650A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862650A>T , CM000667.2:g.41862650A>T	GRCh38
NC_000005.9:g.41862752A>T , CM000667.1:g.41862752A>T	GRCh37
NC_000005.8:g.41898509A>T	NCBI36
NG_011823.1:g.13040T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.179T>A MANE Select	ENSP00000196371.5:p.Leu60Ter
ENST00000196371.9:c.179T>A	ENSP00000196371.5:p.Leu60Ter
NM_000436.3:c.179T>A	NP_000427.1:p.Leu60Ter
XR_427658.2:n.355T>A
NM_001364299.1:c.179T>A	NP_001351228.1:p.Leu60Ter
NM_001364300.1:c.200T>A	NP_001351229.1:p.Leu67Ter
NM_001364301.1:c.179T>A	NP_001351230.1:p.Leu60Ter
NM_001364302.1:c.179T>A	NP_001351231.1:p.Leu60Ter
NR_157114.1:n.246T>A
XR_001742081.2:n.356T>A
NM_000436.4:c.179T>A MANE Select	NP_000427.1:p.Leu60Ter
NM_001364299.2:c.179T>A	NP_001351228.1:p.Leu60Ter
NM_001364300.2:c.200T>A	NP_001351229.1:p.Leu67Ter
NM_001364301.2:c.179T>A	NP_001351230.1:p.Leu60Ter
NM_001364302.2:c.179T>A	NP_001351231.1:p.Leu60Ter
NR_157114.2:n.246T>A