Canonical Allele Identifier: CA1075448251

Gene: OXCT1

Linked Data

• dbSNP Id: rs183838748
• gnomAD v3: 5-41853362-G-C
• gnomAD v4: 5-41853362-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853362G>C , CM000667.2:g.41853362G>C	GRCh38
NC_000005.9:g.41853464G>C , CM000667.1:g.41853464G>C	GRCh37
NC_000005.8:g.41889221G>C	NCBI36
NG_011823.1:g.22328C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.414+57C>G MANE Select	ENSP00000196371.5:n.414+57C>G
ENST00000196371.9:c.414+57C>G	ENSP00000196371.5:n.414+57C>G
NM_000436.3:c.414+57C>G	NP_000427.1:n.414+57C>G
XR_427658.2:n.590+57C>G
NM_001364299.1:c.414+57C>G	NP_001351228.1:n.414+57C>G
NM_001364300.1:c.435+57C>G	NP_001351229.1:n.435+57C>G
NM_001364301.1:c.414+57C>G	NP_001351230.1:n.414+57C>G
NM_001364302.1:c.414+57C>G	NP_001351231.1:n.414+57C>G
NR_157114.1:n.481+57C>G
XR_001742081.2:n.591+57C>G
NM_000436.4:c.414+57C>G MANE Select	NP_000427.1:n.414+57C>G
NM_001364299.2:c.414+57C>G	NP_001351228.1:n.414+57C>G
NM_001364300.2:c.435+57C>G	NP_001351229.1:n.435+57C>G
NM_001364301.2:c.414+57C>G	NP_001351230.1:n.414+57C>G
NM_001364302.2:c.414+57C>G	NP_001351231.1:n.414+57C>G
NR_157114.2:n.481+57C>G