Linked Data
ClinVar Variation Id:
2810075
ClinVar RCV Id:
RCV003625166
dbSNP Id:
rs2091436432
gnomAD v3:
X-153688634-C-T
gnomAD v4:
X-153688634-C-T
MyVariant Identifiers:
chrX:g.152954089C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688634C>T , CM000685.2:g.153688634C>T | GRCh38 |
| NC_000023.10:g.152954089C>T , CM000685.1:g.152954089C>T | GRCh37 |
| NC_000023.9:g.152607283C>T | NCBI36 |
| NG_012016.1:g.5338C>T | |
| NG_012016.2:g.5338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.60C>T (SLC6A8) MANE Select | ENSP00000253122.5:p.Gly20= | |
| ENST00000253122.9:c.60C>T (SLC6A8) | ENSP00000253122.5:p.Gly20= | |
| ENST00000458354.5:c.-3+181G>A (PNCK) | ENSP00000401542.1:n.-3+181G>A | |
| ENST00000480693.1:n.64+181G>A (PNCK) | ||
| NM_001142805.1:c.60C>T (SLC6A8) | NP_001136277.1:p.Gly20= | |
| NM_005629.3:c.60C>T (SLC6A8) | NP_005620.1:p.Gly20= | |
| NM_005629.4:c.60C>T (SLC6A8) MANE Select | NP_005620.1:p.Gly20= | |
| NM_001142805.2:c.60C>T (SLC6A8) | NP_001136277.1:p.Gly20= |