Linked Data
ClinVar Variation Id:
451787
ClinVar RCV Id:
RCV000523930
dbSNP Id:
rs1554800621
gnomAD v4:
10-49611339-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49611339T>A , CM000672.2:g.49611339T>A | GRCh38 |
| NC_000010.10:g.50819385T>A , CM000672.1:g.50819385T>A | GRCh37 |
| NC_000010.9:g.50489391T>A | NCBI36 |
| NG_011797.1:g.7245T>A | |
| NG_053144.1:g.6039T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.599T>A (SLC18A3) MANE Select | ENSP00000363229.3:p.Ile200Asn | |
| ENST00000339797.5:c.-69+2140T>A (CHAT) | ENSP00000343486.1:n.-69+2140T>A | |
| ENST00000374115.4:c.599T>A (SLC18A3) | ENSP00000363229.3:p.Ile200Asn | |
| NM_003055.2:c.599T>A (SLC18A3) | NP_003046.2:p.Ile200Asn | |
| NM_020984.3:c.-69+2140T>A (CHAT) | NP_066264.3:n.-69+2140T>A | |
| NM_003055.3:c.599T>A (SLC18A3) MANE Select | NP_003046.2:p.Ile200Asn | |
| NM_020984.4:c.-69+2140T>A (CHAT) | NP_066264.4:n.-69+2140T>A |