Linked Data
ClinVar Variation Id:
353670
ClinVar RCV Id:
RCV000357339
dbSNP Id:
rs886060639
gnomAD v4:
5-41870412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41870412C>T , CM000667.2:g.41870412C>T | GRCh38 |
| NC_000005.9:g.41870514C>T , CM000667.1:g.41870514C>T | GRCh37 |
| NC_000005.8:g.41906271C>T | NCBI36 |
| NG_011823.1:g.5278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.-54G>A (OXCT1) MANE Select | ENSP00000196371.5:n.-54G>A | |
| ENST00000196371.9:c.-54G>A (OXCT1) | ENSP00000196371.5:n.-54G>A | |
| NM_000436.3:c.-54G>A (OXCT1) | NP_000427.1:n.-54G>A | |
| NR_046635.1:n.255+30C>T (OXCT1-AS1) | ||
| XR_427658.2:n.123G>A (OXCT1) | ||
| XR_427695.2:n.402+1340C>T | ||
| XR_427696.2:n.363+1379C>T | ||
| XR_925956.1:n.932+810C>T | ||
| NM_001364299.1:c.-54G>A (OXCT1) | NP_001351228.1:n.-54G>A | |
| NM_001364300.1:c.-669G>A (OXCT1) | NP_001351229.1:n.-669G>A | |
| NM_001364301.1:c.-54G>A (OXCT1) | NP_001351230.1:n.-54G>A | |
| NM_001364302.1:c.-54G>A (OXCT1) | NP_001351231.1:n.-54G>A | |
| NR_157114.1:n.14G>A (OXCT1) | ||
| XR_001742081.2:n.124G>A (OXCT1) | ||
| XR_427695.3:n.2617+1340C>T | ||
| XR_925956.3:n.3147+810C>T | ||
| NM_000436.4:c.-54G>A (OXCT1) MANE Select | NP_000427.1:n.-54G>A | |
| NM_001364299.2:c.-54G>A (OXCT1) | NP_001351228.1:n.-54G>A | |
| NM_001364300.2:c.-669G>A (OXCT1) | NP_001351229.1:n.-669G>A | |
| NM_001364301.2:c.-54G>A (OXCT1) | NP_001351230.1:n.-54G>A | |
| NM_001364302.2:c.-54G>A (OXCT1) | NP_001351231.1:n.-54G>A | |
| NR_157114.2:n.14G>A (OXCT1) |