Canonical Allele Identifier:
CA2553146142
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53057197G>A , CM000665.2:g.53057197G>A | GRCh38 |
| NC_000003.11:g.53091213G>A , CM000665.1:g.53091213G>A | GRCh37 |
| NC_000003.10:g.53066253G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607203.1:c.318-9958C>T | ||
| ENST00000607283.5:c.465-13943C>T | ||
| ENST00000607495.5:c.447+20491C>T |