Canonical Allele Identifier:
CA2467806914
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.644634T= , CM000686.2:g.644634T= | GRCh38 |
| NC_000024.9:g.555369T= , CM000686.1:g.555369T= | GRCh37 |
| NC_000024.8:g.525369T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.633+3547T= | ENSP00000518639.1:n.633+3547T= | |
| ENST00000711142.1:c.877T= | ENSP00000518640.1:p.Ter293= | |
| ENST00000711143.1:c.633+3547T= | ENSP00000518641.1:n.633+3547T= | |
| ENST00000711145.1:c.877T= | ENSP00000518642.1:p.Ter293= |