Canonical Allele Identifier: CA2673713474
Gene: OXCT1 HGNC NCBI

Linked Data

gnomAD v4: 5-41862574-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41862574G>A , CM000667.2:g.41862574G>A GRCh38
NC_000005.9:g.41862676G>A , CM000667.1:g.41862676G>A GRCh37
NC_000005.8:g.41898433G>A NCBI36
NG_011823.1:g.13116C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196371.10:c.187+68C>T MANE Select ENSP00000196371.5:n.187+68C>T
ENST00000196371.9:c.187+68C>T ENSP00000196371.5:n.187+68C>T
NM_000436.3:c.187+68C>T NP_000427.1:n.187+68C>T
XR_427658.2:n.363+68C>T
NM_001364299.1:c.187+68C>T NP_001351228.1:n.187+68C>T
NM_001364300.1:c.208+68C>T NP_001351229.1:n.208+68C>T
NM_001364301.1:c.187+68C>T NP_001351230.1:n.187+68C>T
NM_001364302.1:c.187+68C>T NP_001351231.1:n.187+68C>T
NR_157114.1:n.254+68C>T
XR_001742081.2:n.364+68C>T
NM_000436.4:c.187+68C>T MANE Select NP_000427.1:n.187+68C>T
NM_001364299.2:c.187+68C>T NP_001351228.1:n.187+68C>T
NM_001364300.2:c.208+68C>T NP_001351229.1:n.208+68C>T
NM_001364301.2:c.187+68C>T NP_001351230.1:n.187+68C>T
NM_001364302.2:c.187+68C>T NP_001351231.1:n.187+68C>T
NR_157114.2:n.254+68C>T