Canonical Allele Identifier: CA359627919

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862747C>G (hg19) ; chr5:g.41862645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862645C>G , CM000667.2:g.41862645C>G	GRCh38
NC_000005.9:g.41862747C>G , CM000667.1:g.41862747C>G	GRCh37
NC_000005.8:g.41898504C>G	NCBI36
NG_011823.1:g.13045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.184G>C MANE Select	ENSP00000196371.5:p.Gly62Arg
ENST00000196371.9:c.184G>C	ENSP00000196371.5:p.Gly62Arg
NM_000436.3:c.184G>C	NP_000427.1:p.Gly62Arg
XR_427658.2:n.360G>C
NM_001364299.1:c.184G>C	NP_001351228.1:p.Gly62Arg
NM_001364300.1:c.205G>C	NP_001351229.1:p.Gly69Arg
NM_001364301.1:c.184G>C	NP_001351230.1:p.Gly62Arg
NM_001364302.1:c.184G>C	NP_001351231.1:p.Gly62Arg
NR_157114.1:n.251G>C
XR_001742081.2:n.361G>C
NM_000436.4:c.184G>C MANE Select	NP_000427.1:p.Gly62Arg
NM_001364299.2:c.184G>C	NP_001351228.1:p.Gly62Arg
NM_001364300.2:c.205G>C	NP_001351229.1:p.Gly69Arg
NM_001364301.2:c.184G>C	NP_001351230.1:p.Gly62Arg
NM_001364302.2:c.184G>C	NP_001351231.1:p.Gly62Arg
NR_157114.2:n.251G>C