Linked Data
ClinVar Variation Id:
1418256
ClinVar RCV Id:
RCV001952028
dbSNP Id:
rs191820007
ExAC:
22:18604298 C / T
gnomAD v2:
22-18604298-C-T
gnomAD v3:
22-18121531-C-T
gnomAD v4:
22-18121531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18121531C>T , CM000684.2:g.18121531C>T | GRCh38 |
| NC_000022.10:g.18604298C>T , CM000684.1:g.18604298C>T | GRCh37 |
| NC_000022.9:g.16984298C>T | NCBI36 |
| NG_023429.1:g.15846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.56C>T (TUBA8) MANE Select | ENSP00000333326.3:p.Ala19Val | |
| ENST00000416740.2:c.-143C>T (TUBA8) | ENSP00000412646.2:n.-143C>T | |
| ENST00000474897.6:c.867C>T | ENSP00000434235.2:p.Cys289= | |
| ENST00000679481.1:n.425C>T (TUBA8) | ||
| ENST00000679963.1:c.-143C>T (TUBA8) | ENSP00000505896.1:n.-143C>T | |
| ENST00000680175.1:c.56C>T (TUBA8) | ENSP00000505461.1:p.Ala19Val | |
| ENST00000316027.10:c.-143C>T (TUBA8) | ENSP00000318575.6:n.-143C>T | |
| ENST00000330423.7:c.56C>T (TUBA8) | ENSP00000333326.3:p.Ala19Val | |
| ENST00000416740.1:c.128C>T (TUBA8) | ENSP00000412646.1:p.Ala43Val | |
| ENST00000426208.5:c.-143C>T (TUBA8) | ENSP00000407624.1:n.-143C>T | |
| ENST00000474897.5:c.424C>T (PEX26) | ENSP00000434235.1:p.Pro142Ser | |
| NM_001193414.1:c.-143C>T (TUBA8) | NP_001180343.1:n.-143C>T | |
| NM_018943.2:c.56C>T (TUBA8) | NP_061816.1:p.Ala19Val | |
| NM_018943.3:c.56C>T (TUBA8) MANE Select | NP_061816.1:p.Ala19Val | |
| NM_001193414.2:c.-143C>T (TUBA8) | NP_001180343.1:n.-143C>T |