Canonical Allele Identifier: CA810728143

Gene: OXCT1

Linked Data

• dbSNP Id: rs1200014944
• MyVariant Identifiers: chr5:g.41853454T>C (hg19) ; chr5:g.41853352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853352T>C , CM000667.2:g.41853352T>C	GRCh38
NC_000005.9:g.41853454T>C , CM000667.1:g.41853454T>C	GRCh37
NC_000005.8:g.41889211T>C	NCBI36
NG_011823.1:g.22338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.414+67A>G MANE Select	ENSP00000196371.5:n.414+67A>G
ENST00000196371.9:c.414+67A>G	ENSP00000196371.5:n.414+67A>G
NM_000436.3:c.414+67A>G	NP_000427.1:n.414+67A>G
XR_427658.2:n.590+67A>G
NM_001364299.1:c.414+67A>G	NP_001351228.1:n.414+67A>G
NM_001364300.1:c.435+67A>G	NP_001351229.1:n.435+67A>G
NM_001364301.1:c.414+67A>G	NP_001351230.1:n.414+67A>G
NM_001364302.1:c.414+67A>G	NP_001351231.1:n.414+67A>G
NR_157114.1:n.481+67A>G
XR_001742081.2:n.591+67A>G
NM_000436.4:c.414+67A>G MANE Select	NP_000427.1:n.414+67A>G
NM_001364299.2:c.414+67A>G	NP_001351228.1:n.414+67A>G
NM_001364300.2:c.435+67A>G	NP_001351229.1:n.435+67A>G
NM_001364301.2:c.414+67A>G	NP_001351230.1:n.414+67A>G
NM_001364302.2:c.414+67A>G	NP_001351231.1:n.414+67A>G
NR_157114.2:n.481+67A>G