Canonical Allele Identifier:
CA2632821119
Gene:
Linked Data
gnomAD v4:
16-31090800-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090800A>G , CM000678.2:g.31090800A>G | GRCh38 |
| NC_000016.9:g.31102121A>G , CM000678.1:g.31102121A>G | GRCh37 |
| NC_000016.8:g.31009622A>G | NCBI36 |
| NG_011564.1:g.9156T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2512T>C | ENSP00000431371.1:n.283+2512T>C | |
| ENST00000532364.1:c.173+3757T>C | ENSP00000460316.1:n.173+3757T>C | |
| ENST00000533518.5:c.407+292T>C |