Linked Data
dbSNP Id:
rs1603213032
gnomAD v4:
X-153688835-A-G
MyVariant Identifiers:
chrX:g.152954290A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688835A>G , CM000685.2:g.153688835A>G | GRCh38 |
| NC_000023.10:g.152954290A>G , CM000685.1:g.152954290A>G | GRCh37 |
| NC_000023.9:g.152607484A>G | NCBI36 |
| NG_012016.1:g.5539A>G | |
| NG_012016.2:g.5539A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.261A>G (SLC6A8) MANE Select | ENSP00000253122.5:p.Gly87= | |
| ENST00000253122.9:c.261A>G (SLC6A8) | ENSP00000253122.5:p.Gly87= | |
| ENST00000458354.5:c.-23T>C (PNCK) | ENSP00000401542.1:n.-23T>C | |
| ENST00000476466.1:n.113A>G (SLC6A8) | ||
| ENST00000480693.1:n.44T>C (PNCK) | ||
| NM_001142805.1:c.261A>G (SLC6A8) | NP_001136277.1:p.Gly87= | |
| NM_005629.3:c.261A>G (SLC6A8) | NP_005620.1:p.Gly87= | |
| NM_005629.4:c.261A>G (SLC6A8) MANE Select | NP_005620.1:p.Gly87= | |
| NM_001142805.2:c.261A>G (SLC6A8) | NP_001136277.1:p.Gly87= |