Linked Data
ClinVar Variation Id:
392671
dbSNP Id:
rs1057524586
gnomAD v4:
X-153688622-C-A
ERepo:
CA16609138/MONDO:0010305/027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688622C>A , CM000685.2:g.153688622C>A | GRCh38 |
| NC_000023.10:g.152954077C>A , CM000685.1:g.152954077C>A | GRCh37 |
| NC_000023.9:g.152607271C>A | NCBI36 |
| NG_012016.1:g.5326C>A | |
| NG_012016.2:g.5326C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.48C>A (SLC6A8) MANE Select | ENSP00000253122.5:p.Asp16Glu | |
| ENST00000253122.9:c.48C>A (SLC6A8) | ENSP00000253122.5:p.Asp16Glu | |
| ENST00000458354.5:c.-3+193G>T (PNCK) | ENSP00000401542.1:n.-3+193G>T | |
| ENST00000480693.1:n.64+193G>T (PNCK) | ||
| NM_001142805.1:c.48C>A (SLC6A8) | NP_001136277.1:p.Asp16Glu | |
| NM_005629.3:c.48C>A (SLC6A8) | NP_005620.1:p.Asp16Glu | |
| NM_005629.4:c.48C>A (SLC6A8) MANE Select | NP_005620.1:p.Asp16Glu | |
| NM_001142805.2:c.48C>A (SLC6A8) | NP_001136277.1:p.Asp16Glu |