Canonical Allele Identifier:
CA15968191
Community Standard Title: NC_000020.11:g.40640434T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40640434T>C , CM000682.2:g.40640434T>C | GRCh38 |
| NC_000020.10:g.39269074T>C , CM000682.1:g.39269074T>C | GRCh37 |
| NC_000020.9:g.38702488T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001754596.1:n.165+100A>G | |
| XR_001754597.1:n.180+3477A>G |