Canonical Allele Identifier:
CA2610262444
Gene:
Linked Data
gnomAD v4:
10-94762623-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762623C>A , CM000672.2:g.94762623C>A | GRCh38 |
| NC_000010.10:g.96522380C>A , CM000672.1:g.96522380C>A | GRCh37 |
| NC_000010.9:g.96512370C>A | NCBI36 |
| NG_008384.2:g.4918C>A | |
| NG_008384.3:g.4943C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000464755.1:c.932-12435C>A | ENSP00000483243.1:n.932-12435C>A |