Canonical Allele Identifier:
CA12739312
Community Standard Title: NC_000008.11:g.126912414C>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126912414C>A , CM000670.2:g.126912414C>A | GRCh38 |
| NC_000008.10:g.127924659C>A , CM000670.1:g.127924659C>A | GRCh37 |
| NC_000008.9:g.127993841C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001746076.2:n.1300+34624C>A |