Canonical Allele Identifier: CA359629311

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41853549C>A (hg19) ; chr5:g.41853447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853447C>A , CM000667.2:g.41853447C>A	GRCh38
NC_000005.9:g.41853549C>A , CM000667.1:g.41853549C>A	GRCh37
NC_000005.8:g.41889306C>A	NCBI36
NG_011823.1:g.22243G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.386G>T MANE Select	ENSP00000196371.5:p.Gly129Val
ENST00000196371.9:c.386G>T	ENSP00000196371.5:p.Gly129Val
NM_000436.3:c.386G>T	NP_000427.1:p.Gly129Val
XR_427658.2:n.562G>T
NM_001364299.1:c.386G>T	NP_001351228.1:p.Gly129Val
NM_001364300.1:c.407G>T	NP_001351229.1:p.Gly136Val
NM_001364301.1:c.386G>T	NP_001351230.1:p.Gly129Val
NM_001364302.1:c.386G>T	NP_001351231.1:p.Gly129Val
NR_157114.1:n.453G>T
XR_001742081.2:n.563G>T
NM_000436.4:c.386G>T MANE Select	NP_000427.1:p.Gly129Val
NM_001364299.2:c.386G>T	NP_001351228.1:p.Gly129Val
NM_001364300.2:c.407G>T	NP_001351229.1:p.Gly136Val
NM_001364301.2:c.386G>T	NP_001351230.1:p.Gly129Val
NM_001364302.2:c.386G>T	NP_001351231.1:p.Gly129Val
NR_157114.2:n.453G>T