Canonical Allele Identifier:
CA1913044115
Community Standard Title: NC_000010.11:g.58451030T>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58451030T>A , CM000672.2:g.58451030T>A | GRCh38 |
| NC_000010.10:g.60210790T>A , CM000672.1:g.60210790T>A | GRCh37 |
| NC_000010.9:g.59880796T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_945981.1:n.356+15373T>A | |
| XR_945981.2:n.360+15373T>A | |
| XR_945982.1:n.356+15373T>A | |
| XR_945982.2:n.360+15373T>A | |
| XR_945983.1:n.356+15373T>A | |
| XR_945983.2:n.360+15373T>A | |
| XR_945984.1:n.113-16155T>A | |
| XR_945984.2:n.117-16155T>A | |
| XR_945985.1:n.73+14824T>A | |
| XR_945985.2:n.73+14824T>A | |
| XR_945986.1:n.356+15373T>A |