Canonical Allele Identifier: CA443805242

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862748A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862646A>G , CM000667.2:g.41862646A>G	GRCh38
NC_000005.9:g.41862748A>G , CM000667.1:g.41862748A>G	GRCh37
NC_000005.8:g.41898505A>G	NCBI36
NG_011823.1:g.13044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.183T>C MANE Select	ENSP00000196371.5:p.Val61=
ENST00000196371.9:c.183T>C	ENSP00000196371.5:p.Val61=
NM_000436.3:c.183T>C	NP_000427.1:p.Val61=
XR_427658.2:n.359T>C
NM_001364299.1:c.183T>C	NP_001351228.1:p.Val61=
NM_001364300.1:c.204T>C	NP_001351229.1:p.Val68=
NM_001364301.1:c.183T>C	NP_001351230.1:p.Val61=
NM_001364302.1:c.183T>C	NP_001351231.1:p.Val61=
NR_157114.1:n.250T>C
XR_001742081.2:n.360T>C
NM_000436.4:c.183T>C MANE Select	NP_000427.1:p.Val61=
NM_001364299.2:c.183T>C	NP_001351228.1:p.Val61=
NM_001364300.2:c.204T>C	NP_001351229.1:p.Val68=
NM_001364301.2:c.183T>C	NP_001351230.1:p.Val61=
NM_001364302.2:c.183T>C	NP_001351231.1:p.Val61=
NR_157114.2:n.250T>C