Canonical Allele Identifier:
CA2580576138
Community Standard Title: NC_000004.12:g.80243569C>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80243569C>A , CM000666.2:g.80243569C>A | GRCh38 |
| NC_000004.11:g.81164723C>A , CM000666.1:g.81164723C>A | GRCh37 |
| NC_000004.10:g.81383747C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_938930.1:n.186+11283C>A |