Canonical Allele Identifier:
CA10604121
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.644621G>A , CM000686.2:g.644621G>A | GRCh38 |
| NC_000024.9:g.555356G>A , CM000686.1:g.555356G>A | GRCh37 |
| NC_000024.8:g.525356G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711141.1:c.633+3534G>A | ENSP00000518639.1:n.633+3534G>A | |
| ENST00000711142.1:c.864G>A | ENSP00000518640.1:p.Glu288= | |
| ENST00000711143.1:c.633+3534G>A | ENSP00000518641.1:n.633+3534G>A | |
| ENST00000711145.1:c.864G>A | ENSP00000518642.1:p.Glu288= |