Linked Data
ClinVar Variation Id:
2321548
ClinVar RCV Id:
RCV002915675
dbSNP Id:
rs1590545082
gnomAD v3:
10-49611773-A-G
gnomAD v4:
10-49611773-A-G
COSMIC:
COSM4091199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611773A>G , CM000672.2:g.49611773A>G | GRCh38 |
| NC_000010.10:g.50819819A>G , CM000672.1:g.50819819A>G | GRCh37 |
| NC_000010.9:g.50489825A>G | NCBI36 |
| NG_011797.1:g.7679A>G | |
| NG_053144.1:g.6473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.1033A>G (SLC18A3) MANE Select | ENSP00000363229.3:p.Thr345Ala | |
| ENST00000339797.5:c.-69+2574A>G (CHAT) | ENSP00000343486.1:n.-69+2574A>G | |
| ENST00000374115.4:c.1033A>G (SLC18A3) | ENSP00000363229.3:p.Thr345Ala | |
| NM_003055.2:c.1033A>G (SLC18A3) | NP_003046.2:p.Thr345Ala | |
| NM_020984.3:c.-69+2574A>G (CHAT) | NP_066264.3:n.-69+2574A>G | |
| NM_003055.3:c.1033A>G (SLC18A3) MANE Select | NP_003046.2:p.Thr345Ala | |
| NM_020984.4:c.-69+2574A>G (CHAT) | NP_066264.4:n.-69+2574A>G |