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_000009.12:g.127814157G>A , CM000671.2:g.127814157G>A | GRCh38 |
| NC_000009.11:g.130576436G>A , CM000671.1:g.130576436G>A | GRCh37 |
| NC_000009.10:g.129616257G>A | NCBI36 |
| NG_009551.1:g.45612C>T , LRG_589:g.45612C>T | |
| NG_023245.1:g.16283G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-51G>A | |
| XM_005251864.2:c.1484-51G>A | XP_005251921.1:n.1484-51G>A |
| XM_005251864.4:c.1484-51G>A | XP_005251921.1:n.1484-51G>A |
| XM_017014565.2:c.1334-51G>A | XP_016870054.1:n.1334-51G>A |
| XR_242582.2:n.1381-51G>A | |
| XR_242582.4:n.1379-51G>A |