Canonical Allele Identifier: CA443805235

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41862643-A-C
• MyVariant Identifiers: chr5:g.41862745A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862643A>C , CM000667.2:g.41862643A>C	GRCh38
NC_000005.9:g.41862745A>C , CM000667.1:g.41862745A>C	GRCh37
NC_000005.8:g.41898502A>C	NCBI36
NG_011823.1:g.13047T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.186T>G MANE Select	ENSP00000196371.5:p.Gly62=
ENST00000196371.9:c.186T>G	ENSP00000196371.5:p.Gly62=
NM_000436.3:c.186T>G	NP_000427.1:p.Gly62=
XR_427658.2:n.362T>G
NM_001364299.1:c.186T>G	NP_001351228.1:p.Gly62=
NM_001364300.1:c.207T>G	NP_001351229.1:p.Gly69=
NM_001364301.1:c.186T>G	NP_001351230.1:p.Gly62=
NM_001364302.1:c.186T>G	NP_001351231.1:p.Gly62=
NR_157114.1:n.253T>G
XR_001742081.2:n.363T>G
NM_000436.4:c.186T>G MANE Select	NP_000427.1:p.Gly62=
NM_001364299.2:c.186T>G	NP_001351228.1:p.Gly62=
NM_001364300.2:c.207T>G	NP_001351229.1:p.Gly69=
NM_001364301.2:c.186T>G	NP_001351230.1:p.Gly62=
NM_001364302.2:c.186T>G	NP_001351231.1:p.Gly62=
NR_157114.2:n.253T>G