Linked Data
ClinVar Variation Id:
1936554
ClinVar RCV Id:
RCV002636477
dbSNP Id:
rs1431970805
gnomAD v2:
10-50819748-C-A
gnomAD v3:
10-49611702-C-A
gnomAD v4:
10-49611702-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611702C>A , CM000672.2:g.49611702C>A | GRCh38 |
| NC_000010.10:g.50819748C>A , CM000672.1:g.50819748C>A | GRCh37 |
| NC_000010.9:g.50489754C>A | NCBI36 |
| NG_011797.1:g.7608C>A | |
| NG_053144.1:g.6402C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.962C>A (SLC18A3) MANE Select | ENSP00000363229.3:p.Ala321Glu | |
| ENST00000339797.5:c.-69+2503C>A (CHAT) | ENSP00000343486.1:n.-69+2503C>A | |
| ENST00000374115.4:c.962C>A (SLC18A3) | ENSP00000363229.3:p.Ala321Glu | |
| NM_003055.2:c.962C>A (SLC18A3) | NP_003046.2:p.Ala321Glu | |
| NM_020984.3:c.-69+2503C>A (CHAT) | NP_066264.3:n.-69+2503C>A | |
| NM_003055.3:c.962C>A (SLC18A3) MANE Select | NP_003046.2:p.Ala321Glu | |
| NM_020984.4:c.-69+2503C>A (CHAT) | NP_066264.4:n.-69+2503C>A |