Linked Data
dbSNP Id:
rs755666285
ExAC:
10:50819823 T / C
gnomAD v2:
10-50819823-T-C
gnomAD v4:
10-49611777-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611777T>C , CM000672.2:g.49611777T>C | GRCh38 |
| NC_000010.10:g.50819823T>C , CM000672.1:g.50819823T>C | GRCh37 |
| NC_000010.9:g.50489829T>C | NCBI36 |
| NG_011797.1:g.7683T>C | |
| NG_053144.1:g.6477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.1037T>C (SLC18A3) MANE Select | ENSP00000363229.3:p.Val346Ala | |
| ENST00000339797.5:c.-69+2578T>C (CHAT) | ENSP00000343486.1:n.-69+2578T>C | |
| ENST00000374115.4:c.1037T>C (SLC18A3) | ENSP00000363229.3:p.Val346Ala | |
| NM_003055.2:c.1037T>C (SLC18A3) | NP_003046.2:p.Val346Ala | |
| NM_020984.3:c.-69+2578T>C (CHAT) | NP_066264.3:n.-69+2578T>C | |
| NM_003055.3:c.1037T>C (SLC18A3) MANE Select | NP_003046.2:p.Val346Ala | |
| NM_020984.4:c.-69+2578T>C (CHAT) | NP_066264.4:n.-69+2578T>C |