Canonical Allele Identifier:
CA2632821142
Gene:
Linked Data
gnomAD v4:
16-31090816-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090816C>A , CM000678.2:g.31090816C>A | GRCh38 |
| NC_000016.9:g.31102137C>A , CM000678.1:g.31102137C>A | GRCh37 |
| NC_000016.8:g.31009638C>A | NCBI36 |
| NG_011564.1:g.9140G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2496G>T | ENSP00000431371.1:n.283+2496G>T | |
| ENST00000532364.1:c.173+3741G>T | ENSP00000460316.1:n.173+3741G>T | |
| ENST00000533518.5:c.407+276G>T |