Canonical Allele Identifier:
CA2824553110
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8734207C>A , CM000686.2:g.8734207C>A | GRCh38 |
| NC_000024.9:g.8602248C>A , CM000686.1:g.8602248C>A | GRCh37 |
| NC_000024.8:g.8662248C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623558.1:c.197-5623C>A | ENSP00000485446.1:n.197-5623C>A | |
| ENST00000624237.1:c.64-7848C>A | ENSP00000485137.1:n.64-7848C>A | |
| ENST00000624593.1:c.-57+14509G>T | ENSP00000485106.1:n.-57+14509G>T |