Canonical Allele Identifier:
CA2632821164
Gene:
Linked Data
gnomAD v4:
16-31090839-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090839T>G , CM000678.2:g.31090839T>G | GRCh38 |
| NC_000016.9:g.31102160T>G , CM000678.1:g.31102160T>G | GRCh37 |
| NC_000016.8:g.31009661T>G | NCBI36 |
| NG_011564.1:g.9117A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2473A>C | ENSP00000431371.1:n.283+2473A>C | |
| ENST00000532364.1:c.173+3718A>C | ENSP00000460316.1:n.173+3718A>C | |
| ENST00000533518.5:c.407+253A>C |