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_000014.9:g.23413421T= , CM000676.2:g.23413421T= | GRCh38 |
| NC_000014.8:g.23882630T= , CM000676.1:g.23882630T= | GRCh37 |
| NC_000014.7:g.22952470T= | NCBI36 |
| NG_007884.1:g.27241A= , LRG_384:g.27241A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5790+338A= MANE Select | ENSP00000347507.3:n.5790+338A= | |
| ENST00000355349.3:c.5790+338A= | ENSP00000347507.3:n.5790+338A= | |
| NM_000257.3:c.5790+338A= | NP_000248.2:n.5790+338A= | |
| XM_017021340.1:c.5790+338A= | XP_016876829.1:n.5790+338A= | |
| NM_000257.4:c.5790+338A= MANE Select | NP_000248.2:n.5790+338A= |