Canonical Allele Identifier: CA2673711479

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41853360-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853360G>T , CM000667.2:g.41853360G>T	GRCh38
NC_000005.9:g.41853462G>T , CM000667.1:g.41853462G>T	GRCh37
NC_000005.8:g.41889219G>T	NCBI36
NG_011823.1:g.22330C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.414+59C>A MANE Select	ENSP00000196371.5:n.414+59C>A
ENST00000196371.9:c.414+59C>A	ENSP00000196371.5:n.414+59C>A
NM_000436.3:c.414+59C>A	NP_000427.1:n.414+59C>A
XR_427658.2:n.590+59C>A
NM_001364299.1:c.414+59C>A	NP_001351228.1:n.414+59C>A
NM_001364300.1:c.435+59C>A	NP_001351229.1:n.435+59C>A
NM_001364301.1:c.414+59C>A	NP_001351230.1:n.414+59C>A
NM_001364302.1:c.414+59C>A	NP_001351231.1:n.414+59C>A
NR_157114.1:n.481+59C>A
XR_001742081.2:n.591+59C>A
NM_000436.4:c.414+59C>A MANE Select	NP_000427.1:n.414+59C>A
NM_001364299.2:c.414+59C>A	NP_001351228.1:n.414+59C>A
NM_001364300.2:c.435+59C>A	NP_001351229.1:n.435+59C>A
NM_001364301.2:c.414+59C>A	NP_001351230.1:n.414+59C>A
NM_001364302.2:c.414+59C>A	NP_001351231.1:n.414+59C>A
NR_157114.2:n.481+59C>A