Canonical Allele Identifier: CA3253593
Community Standard Title: NM_000436.4(OXCT1):c.477A>G (p.Thr159=)
Gene: OXCT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41850117T>C , CM000667.2:g.41850117T>C GRCh38
NC_000005.9:g.41850219T>C , CM000667.1:g.41850219T>C GRCh37
NC_000005.8:g.41885976T>C NCBI36
NG_011823.1:g.25573A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000436.4:c.477A>G MANE Select NP_000427.1:p.Thr159=
ENST00000196371.10:c.477A>G MANE Select ENSP00000196371.5:p.Thr159=
NM_000436.3:c.477A>G NP_000427.1:p.Thr159=
NM_001364299.1:c.498A>G NP_001351228.1:p.Thr166=
NM_001364299.2:c.498A>G NP_001351228.1:p.Thr166=
NM_001364300.1:c.498A>G NP_001351229.1:p.Thr166=
NM_001364300.2:c.498A>G NP_001351229.1:p.Thr166=
NM_001364301.1:c.477A>G NP_001351230.1:p.Thr159=
NM_001364301.2:c.477A>G NP_001351230.1:p.Thr159=
NM_001364302.1:c.477A>G NP_001351231.1:p.Thr159=
NM_001364302.2:c.477A>G NP_001351231.1:p.Thr159=
NR_157114.1:n.544A>G
NR_157114.2:n.544A>G
ENST00000196371.9:c.477A>G ENSP00000196371.5:p.Thr159=
XR_001742081.2:n.654A>G
XR_427658.2:n.653A>G