Linked Data
dbSNP Id:
rs1468282716
gnomAD v3:
X-153688894-A-G
gnomAD v4:
X-153688894-A-G
MyVariant Identifiers:
chrX:g.153688894A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688894A>G , CM000685.2:g.153688894A>G | GRCh38 |
| NC_000023.10:g.152954349A>G , CM000685.1:g.152954349A>G | GRCh37 |
| NC_000023.9:g.152607543A>G | NCBI36 |
| NG_012016.1:g.5598A>G | |
| NG_012016.2:g.5598A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.262+58A>G (SLC6A8) MANE Select | ENSP00000253122.5:n.262+58A>G | |
| ENST00000253122.9:c.262+58A>G (SLC6A8) | ENSP00000253122.5:n.262+58A>G | |
| ENST00000458354.5:c.-82T>C (PNCK) | ENSP00000401542.1:n.-82T>C | |
| ENST00000476466.1:n.114+58A>G (SLC6A8) | ||
| NM_001142805.1:c.262+58A>G (SLC6A8) | NP_001136277.1:n.262+58A>G | |
| NM_005629.3:c.262+58A>G (SLC6A8) | NP_005620.1:n.262+58A>G | |
| NM_005629.4:c.262+58A>G (SLC6A8) MANE Select | NP_005620.1:n.262+58A>G | |
| NM_001142805.2:c.262+58A>G (SLC6A8) | NP_001136277.1:n.262+58A>G |