Canonical Allele Identifier:
CA2467802692
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.640996C= , CM000686.2:g.640996C= | GRCh38 |
| NC_000024.9:g.551731C= , CM000686.1:g.551731C= | GRCh37 |
| NC_000024.8:g.521731C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.545-3C= | ENSP00000518639.1:n.545-3C= | |
| ENST00000711142.1:c.545-3C= | ENSP00000518640.1:n.545-3C= | |
| ENST00000711143.1:c.545-3C= | ENSP00000518641.1:n.545-3C= | |
| ENST00000711145.1:c.545-3C= | ENSP00000518642.1:n.545-3C= |