Canonical Allele Identifier:
CA2632821150
Gene:
Linked Data
gnomAD v4:
16-31090821-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090821C>A , CM000678.2:g.31090821C>A | GRCh38 |
| NC_000016.9:g.31102142C>A , CM000678.1:g.31102142C>A | GRCh37 |
| NC_000016.8:g.31009643C>A | NCBI36 |
| NG_011564.1:g.9135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2491G>T | ENSP00000431371.1:n.283+2491G>T | |
| ENST00000532364.1:c.173+3736G>T | ENSP00000460316.1:n.173+3736G>T | |
| ENST00000533518.5:c.407+271G>T |