Canonical Allele Identifier: CA117805871

Gene: OXCT1

Linked Data

• dbSNP Id: rs183838748
• gnomAD v3: 5-41853362-G-A
• gnomAD v4: 5-41853362-G-A
• MyVariant Identifiers: chr5:g.41853464G>A (hg19) ; chr5:g.41853362G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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