Canonical Allele Identifier: CA359627924

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862750C>G (hg19) ; chr5:g.41862648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862648C>G , CM000667.2:g.41862648C>G	GRCh38
NC_000005.9:g.41862750C>G , CM000667.1:g.41862750C>G	GRCh37
NC_000005.8:g.41898507C>G	NCBI36
NG_011823.1:g.13042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.181G>C MANE Select	ENSP00000196371.5:p.Val61Leu
ENST00000196371.9:c.181G>C	ENSP00000196371.5:p.Val61Leu
NM_000436.3:c.181G>C	NP_000427.1:p.Val61Leu
XR_427658.2:n.357G>C
NM_001364299.1:c.181G>C	NP_001351228.1:p.Val61Leu
NM_001364300.1:c.202G>C	NP_001351229.1:p.Val68Leu
NM_001364301.1:c.181G>C	NP_001351230.1:p.Val61Leu
NM_001364302.1:c.181G>C	NP_001351231.1:p.Val61Leu
NR_157114.1:n.248G>C
XR_001742081.2:n.358G>C
NM_000436.4:c.181G>C MANE Select	NP_000427.1:p.Val61Leu
NM_001364299.2:c.181G>C	NP_001351228.1:p.Val61Leu
NM_001364300.2:c.202G>C	NP_001351229.1:p.Val68Leu
NM_001364301.2:c.181G>C	NP_001351230.1:p.Val61Leu
NM_001364302.2:c.181G>C	NP_001351231.1:p.Val61Leu
NR_157114.2:n.248G>C