Canonical Allele Identifier: CA359627928

Gene: OXCT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.179T>G MANE Select	ENSP00000196371.5:p.Leu60Trp
ENST00000196371.9:c.179T>G	ENSP00000196371.5:p.Leu60Trp
NM_000436.3:c.179T>G	NP_000427.1:p.Leu60Trp
XR_427658.2:n.355T>G
NM_001364299.1:c.179T>G	NP_001351228.1:p.Leu60Trp
NM_001364300.1:c.200T>G	NP_001351229.1:p.Leu67Trp
NM_001364301.1:c.179T>G	NP_001351230.1:p.Leu60Trp
NM_001364302.1:c.179T>G	NP_001351231.1:p.Leu60Trp
NR_157114.1:n.246T>G
XR_001742081.2:n.356T>G
NM_000436.4:c.179T>G MANE Select	NP_000427.1:p.Leu60Trp
NM_001364299.2:c.179T>G	NP_001351228.1:p.Leu60Trp
NM_001364300.2:c.200T>G	NP_001351229.1:p.Leu67Trp
NM_001364301.2:c.179T>G	NP_001351230.1:p.Leu60Trp
NM_001364302.2:c.179T>G	NP_001351231.1:p.Leu60Trp
NR_157114.2:n.246T>G