Canonical Allele Identifier: CA359627916

Gene: OXCT1

Linked Data

• dbSNP Id: rs1749789261
• gnomAD v4: 5-41862644-C-A
• COSMIC: COSM78250
• MyVariant Identifiers: chr5:g.41862746C>A (hg19) ; chr5:g.41862644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862644C>A , CM000667.2:g.41862644C>A	GRCh38
NC_000005.9:g.41862746C>A , CM000667.1:g.41862746C>A	GRCh37
NC_000005.8:g.41898503C>A	NCBI36
NG_011823.1:g.13046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.185G>T MANE Select	ENSP00000196371.5:p.Gly62Val
ENST00000196371.9:c.185G>T	ENSP00000196371.5:p.Gly62Val
NM_000436.3:c.185G>T	NP_000427.1:p.Gly62Val
XR_427658.2:n.361G>T
NM_001364299.1:c.185G>T	NP_001351228.1:p.Gly62Val
NM_001364300.1:c.206G>T	NP_001351229.1:p.Gly69Val
NM_001364301.1:c.185G>T	NP_001351230.1:p.Gly62Val
NM_001364302.1:c.185G>T	NP_001351231.1:p.Gly62Val
NR_157114.1:n.252G>T
XR_001742081.2:n.362G>T
NM_000436.4:c.185G>T MANE Select	NP_000427.1:p.Gly62Val
NM_001364299.2:c.185G>T	NP_001351228.1:p.Gly62Val
NM_001364300.2:c.206G>T	NP_001351229.1:p.Gly69Val
NM_001364301.2:c.185G>T	NP_001351230.1:p.Gly62Val
NM_001364302.2:c.185G>T	NP_001351231.1:p.Gly62Val
NR_157114.2:n.252G>T