Linked Data
ClinVar Variation Id:
291815
ClinVar RCV Id:
RCV000298203
dbSNP Id:
rs886045057
gnomAD v2:
1-11333278-C-T
gnomAD v3:
1-11273221-C-T
gnomAD v4:
1-11273221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273221C>T , CM000663.2:g.11273221C>T | GRCh38 |
| NC_000001.10:g.11333278C>T , CM000663.1:g.11333278C>T | GRCh37 |
| NC_000001.9:g.11255865C>T | NCBI36 |
| NG_009443.1:g.5024C>T | |
| NG_009443.2:g.5024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.-311C>T (UBIAD1) MANE Select | ENSP00000366006.5:n.-311C>T | |
| ENST00000376810.5:c.-311C>T (UBIAD1) | ENSP00000366006.5:n.-311C>T | |
| NM_013319.2:c.-311C>T (UBIAD1) | NP_037451.1:n.-311C>T | |
| XM_006710590.2:c.-311C>T (UBIAD1) | XP_006710653.1:n.-311C>T | |
| XM_011541304.1:c.-311C>T (UBIAD1) | XP_011539606.1:n.-311C>T | |
| XR_946616.1:n.24C>T (UBIAD1) | ||
| NM_001330349.1:c.-311C>T (UBIAD1) | NP_001317278.1:n.-311C>T | |
| NM_001330350.1:c.-311C>T (UBIAD1) | NP_001317279.1:n.-311C>T | |
| XM_024446187.1:c.-547G>A (MTOR) | XP_024301955.1:n.-547G>A | |
| XR_946616.3:n.24C>T (UBIAD1) | ||
| NM_001330349.2:c.-311C>T (UBIAD1) | NP_001317278.1:n.-311C>T | |
| NM_001330350.2:c.-311C>T (UBIAD1) | NP_001317279.1:n.-311C>T | |
| NM_013319.3:c.-311C>T (UBIAD1) MANE Select | NP_037451.1:n.-311C>T |