Canonical Allele Identifier:
CA2632821124
Gene:
Linked Data
gnomAD v4:
16-31090804-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090804A>C , CM000678.2:g.31090804A>C | GRCh38 |
| NC_000016.9:g.31102125A>C , CM000678.1:g.31102125A>C | GRCh37 |
| NC_000016.8:g.31009626A>C | NCBI36 |
| NG_011564.1:g.9152T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2508T>G | ENSP00000431371.1:n.283+2508T>G | |
| ENST00000532364.1:c.173+3753T>G | ENSP00000460316.1:n.173+3753T>G | |
| ENST00000533518.5:c.407+288T>G |