Canonical Allele Identifier:
CA1599927590
Community Standard Title: NC_000005.10:g.169472983T>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.169472983T>A , CM000667.2:g.169472983T>A | GRCh38 |
| NC_000005.9:g.168899987T>A , CM000667.1:g.168899987T>A | GRCh37 |
| NC_000005.8:g.168832565T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_941200.1:n.408-13047A>T | |
| XR_941200.2:n.269-13047A>T | |
| XR_941203.1:n.231-1442T>A | |
| XR_941204.1:n.289-1442T>A | |
| XR_941204.2:n.664-1442T>A | |
| XR_941205.1:n.230+3743T>A | |
| XR_941205.2:n.230+3743T>A |