Canonical Allele Identifier: CA359627926

Gene: OXCT1

Linked Data

• dbSNP Id: rs2112475244
• gnomAD v4: 5-41862649-C-A
• MyVariant Identifiers: chr5:g.41862751C>A (hg19) ; chr5:g.41862649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862649C>A , CM000667.2:g.41862649C>A	GRCh38
NC_000005.9:g.41862751C>A , CM000667.1:g.41862751C>A	GRCh37
NC_000005.8:g.41898508C>A	NCBI36
NG_011823.1:g.13041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.180G>T MANE Select	ENSP00000196371.5:p.Leu60Phe
ENST00000196371.9:c.180G>T	ENSP00000196371.5:p.Leu60Phe
NM_000436.3:c.180G>T	NP_000427.1:p.Leu60Phe
XR_427658.2:n.356G>T
NM_001364299.1:c.180G>T	NP_001351228.1:p.Leu60Phe
NM_001364300.1:c.201G>T	NP_001351229.1:p.Leu67Phe
NM_001364301.1:c.180G>T	NP_001351230.1:p.Leu60Phe
NM_001364302.1:c.180G>T	NP_001351231.1:p.Leu60Phe
NR_157114.1:n.247G>T
XR_001742081.2:n.357G>T
NM_000436.4:c.180G>T MANE Select	NP_000427.1:p.Leu60Phe
NM_001364299.2:c.180G>T	NP_001351228.1:p.Leu60Phe
NM_001364300.2:c.201G>T	NP_001351229.1:p.Leu67Phe
NM_001364301.2:c.180G>T	NP_001351230.1:p.Leu60Phe
NM_001364302.2:c.180G>T	NP_001351231.1:p.Leu60Phe
NR_157114.2:n.247G>T