Canonical Allele Identifier: CA359627937

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41862654-C-T
• MyVariant Identifiers: chr5:g.41862756C>T (hg19) ; chr5:g.41862654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862654C>T , CM000667.2:g.41862654C>T	GRCh38
NC_000005.9:g.41862756C>T , CM000667.1:g.41862756C>T	GRCh37
NC_000005.8:g.41898513C>T	NCBI36
NG_011823.1:g.13036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.175G>A MANE Select	ENSP00000196371.5:p.Val59Ile
ENST00000196371.9:c.175G>A	ENSP00000196371.5:p.Val59Ile
NM_000436.3:c.175G>A	NP_000427.1:p.Val59Ile
XR_427658.2:n.351G>A
NM_001364299.1:c.175G>A	NP_001351228.1:p.Val59Ile
NM_001364300.1:c.196G>A	NP_001351229.1:p.Val66Ile
NM_001364301.1:c.175G>A	NP_001351230.1:p.Val59Ile
NM_001364302.1:c.175G>A	NP_001351231.1:p.Val59Ile
NR_157114.1:n.242G>A
XR_001742081.2:n.352G>A
NM_000436.4:c.175G>A MANE Select	NP_000427.1:p.Val59Ile
NM_001364299.2:c.175G>A	NP_001351228.1:p.Val59Ile
NM_001364300.2:c.196G>A	NP_001351229.1:p.Val66Ile
NM_001364301.2:c.175G>A	NP_001351230.1:p.Val59Ile
NM_001364302.2:c.175G>A	NP_001351231.1:p.Val59Ile
NR_157114.2:n.242G>A