Linked Data
ClinVar Variation Id:
1449243
ClinVar RCV Id:
RCV001997448
dbSNP Id:
rs765073897
ExAC:
22:18606976 A / G
gnomAD v2:
22-18606976-A-G
gnomAD v3:
22-18124209-A-G
gnomAD v4:
22-18124209-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18124209A>G , CM000684.2:g.18124209A>G | GRCh38 |
| NC_000022.10:g.18606976A>G , CM000684.1:g.18606976A>G | GRCh37 |
| NC_000022.9:g.16986976A>G | NCBI36 |
| NG_023429.1:g.18524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.280A>G (TUBA8) MANE Select | ENSP00000333326.3:p.Thr94Ala | |
| ENST00000416740.2:c.82A>G (TUBA8) | ENSP00000412646.2:p.Thr28Ala | |
| ENST00000474897.6:c.*170A>G | ENSP00000434235.2:n.*170A>G | |
| ENST00000679481.1:n.649A>G (TUBA8) | ||
| ENST00000679963.1:c.82A>G (TUBA8) | ENSP00000505896.1:p.Thr28Ala | |
| ENST00000680175.1:c.280A>G (TUBA8) | ENSP00000505461.1:p.Thr94Ala | |
| ENST00000316027.10:c.82A>G (TUBA8) | ENSP00000318575.6:p.Thr28Ala | |
| ENST00000330423.7:c.280A>G (TUBA8) | ENSP00000333326.3:p.Thr94Ala | |
| ENST00000416740.1:c.352A>G (TUBA8) | ENSP00000412646.1:p.Thr118Ala | |
| ENST00000426208.5:c.82A>G (TUBA8) | ENSP00000407624.1:p.Thr28Ala | |
| ENST00000474897.5:c.*78A>G (PEX26) | ENSP00000434235.1:n.*78A>G | |
| NM_001193414.1:c.82A>G (TUBA8) | NP_001180343.1:p.Thr28Ala | |
| NM_018943.2:c.280A>G (TUBA8) | NP_061816.1:p.Thr94Ala | |
| NM_018943.3:c.280A>G (TUBA8) MANE Select | NP_061816.1:p.Thr94Ala | |
| NM_001193414.2:c.82A>G (TUBA8) | NP_001180343.1:p.Thr28Ala |