Linked Data
ClinVar Variation Id:
2189418
ClinVar RCV Id:
RCV002607343
dbSNP Id:
rs760983756
ExAC:
22:18604374 C / T
gnomAD v2:
22-18604374-C-T
gnomAD v3:
22-18121607-C-T
gnomAD v4:
22-18121607-C-T
MyVariant Identifiers:
chr22:g.18604374C>T (hg19)
chr22:g.18604374_18604377delinsTGAT (hg19)
chr22:g.18121607C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18121607C>T , CM000684.2:g.18121607C>T | GRCh38 |
| NC_000022.10:g.18604374C>T , CM000684.1:g.18604374C>T | GRCh37 |
| NC_000022.9:g.16984374C>T | NCBI36 |
| NG_023429.1:g.15922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.132C>T (TUBA8) MANE Select | ENSP00000333326.3:p.Asn44= | |
| ENST00000416740.2:c.-67C>T (TUBA8) | ENSP00000412646.2:n.-67C>T | |
| ENST00000474897.6:c.*22C>T | ENSP00000434235.2:n.*22C>T | |
| ENST00000679481.1:n.501C>T (TUBA8) | ||
| ENST00000679963.1:c.-67C>T (TUBA8) | ENSP00000505896.1:n.-67C>T | |
| ENST00000680175.1:c.132C>T (TUBA8) | ENSP00000505461.1:p.Asn44= | |
| ENST00000316027.10:c.-67C>T (TUBA8) | ENSP00000318575.6:n.-67C>T | |
| ENST00000330423.7:c.132C>T (TUBA8) | ENSP00000333326.3:p.Asn44= | |
| ENST00000416740.1:c.204C>T (TUBA8) | ENSP00000412646.1:p.Asn68= | |
| ENST00000426208.5:c.-67C>T (TUBA8) | ENSP00000407624.1:n.-67C>T | |
| ENST00000474897.5:c.500C>T (PEX26) | ENSP00000434235.1:p.Thr167Met | |
| NM_001193414.1:c.-67C>T (TUBA8) | NP_001180343.1:n.-67C>T | |
| NM_018943.2:c.132C>T (TUBA8) | NP_061816.1:p.Asn44= | |
| NM_018943.3:c.132C>T (TUBA8) MANE Select | NP_061816.1:p.Asn44= | |
| NM_001193414.2:c.-67C>T (TUBA8) | NP_001180343.1:n.-67C>T |