Linked Data
ClinVar Variation Id:
1198298
ClinVar RCV Id:
RCV001562402
dbSNP Id:
rs2148358489
gnomAD v4:
X-153688688-G-A
MyVariant Identifiers:
chrX:g.152954143G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688688G>A , CM000685.2:g.153688688G>A | GRCh38 |
| NC_000023.10:g.152954143G>A , CM000685.1:g.152954143G>A | GRCh37 |
| NC_000023.9:g.152607337G>A | NCBI36 |
| NG_012016.1:g.5392G>A | |
| NG_012016.2:g.5392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.114G>A (SLC6A8) MANE Select | ENSP00000253122.5:p.Val38= | |
| ENST00000253122.9:c.114G>A (SLC6A8) | ENSP00000253122.5:p.Val38= | |
| ENST00000458354.5:c.-3+127C>T (PNCK) | ENSP00000401542.1:n.-3+127C>T | |
| ENST00000480693.1:n.64+127C>T (PNCK) | ||
| NM_001142805.1:c.114G>A (SLC6A8) | NP_001136277.1:p.Val38= | |
| NM_005629.3:c.114G>A (SLC6A8) | NP_005620.1:p.Val38= | |
| NM_005629.4:c.114G>A (SLC6A8) MANE Select | NP_005620.1:p.Val38= | |
| NM_001142805.2:c.114G>A (SLC6A8) | NP_001136277.1:p.Val38= |