This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153687965G= , CM000685.2:g.153687965G= | GRCh38 |
| NC_000023.10:g.152953420G= , CM000685.1:g.152953420G= | GRCh37 |
| NC_000023.9:g.152606614G= | NCBI36 |
| NG_012016.1:g.4669G= | |
| NG_012016.2:g.4669G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.-610G= (SLC6A8) MANE Select | NP_005620.1:n.-610G= |
| ENST00000253122.10:c.-610G= (SLC6A8) MANE Select | ENSP00000253122.5:n.-610G= |
| NM_001142805.2:c.-610G= (SLC6A8) | NP_001136277.1:n.-610G= |
| ENST00000458354.5:c.-3+850C= (PNCK) | ENSP00000401542.1:n.-3+850C= |
| ENST00000480693.1:n.65-418C= (PNCK) |