Canonical Allele Identifier:
CA13040836
Community Standard Title: NC_000009.12:g.134544468G>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134544468G>A , CM000671.2:g.134544468G>A | GRCh38 |
| NC_000009.11:g.137436314G>A , CM000671.1:g.137436314G>A | GRCh37 |
| NC_000009.10:g.136576135G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_109854.3:n.2568-452G>A | |
| XR_109854.5:n.2497-452G>A | |
| XR_930416.1:n.171-452G>A | |
| XR_930416.2:n.194-452G>A | |
| XR_930417.1:n.342-452G>A | |
| XR_930417.2:n.365-452G>A |