Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611780G>C , CM000672.2:g.49611780G>C | GRCh38 |
| NC_000010.10:g.50819826G>C , CM000672.1:g.50819826G>C | GRCh37 |
| NC_000010.9:g.50489832G>C | NCBI36 |
| NG_011797.1:g.7686G>C | |
| NG_053144.1:g.6480G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.1040G>C (SLC18A3) MANE Select | ENSP00000363229.3:p.Arg347Pro | |
| ENST00000339797.5:c.-69+2581G>C (CHAT) | ENSP00000343486.1:n.-69+2581G>C | |
| ENST00000374115.4:c.1040G>C (SLC18A3) | ENSP00000363229.3:p.Arg347Pro | |
| NM_003055.2:c.1040G>C (SLC18A3) | NP_003046.2:p.Arg347Pro | |
| NM_020984.3:c.-69+2581G>C (CHAT) | NP_066264.3:n.-69+2581G>C | |
| NM_003055.3:c.1040G>C (SLC18A3) MANE Select | NP_003046.2:p.Arg347Pro | |
| NM_020984.4:c.-69+2581G>C (CHAT) | NP_066264.4:n.-69+2581G>C |