Canonical Allele Identifier: CA359627932

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862753A>T (hg19) ; chr5:g.41862651A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862651A>T , CM000667.2:g.41862651A>T	GRCh38
NC_000005.9:g.41862753A>T , CM000667.1:g.41862753A>T	GRCh37
NC_000005.8:g.41898510A>T	NCBI36
NG_011823.1:g.13039T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.178T>A MANE Select	ENSP00000196371.5:p.Leu60Met
ENST00000196371.9:c.178T>A	ENSP00000196371.5:p.Leu60Met
NM_000436.3:c.178T>A	NP_000427.1:p.Leu60Met
XR_427658.2:n.354T>A
NM_001364299.1:c.178T>A	NP_001351228.1:p.Leu60Met
NM_001364300.1:c.199T>A	NP_001351229.1:p.Leu67Met
NM_001364301.1:c.178T>A	NP_001351230.1:p.Leu60Met
NM_001364302.1:c.178T>A	NP_001351231.1:p.Leu60Met
NR_157114.1:n.245T>A
XR_001742081.2:n.355T>A
NM_000436.4:c.178T>A MANE Select	NP_000427.1:p.Leu60Met
NM_001364299.2:c.178T>A	NP_001351228.1:p.Leu60Met
NM_001364300.2:c.199T>A	NP_001351229.1:p.Leu67Met
NM_001364301.2:c.178T>A	NP_001351230.1:p.Leu60Met
NM_001364302.2:c.178T>A	NP_001351231.1:p.Leu60Met
NR_157114.2:n.245T>A