Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19397066C>G , CM000684.2:g.19397066C>G | GRCh38 |
| NC_000022.10:g.19384589C>G , CM000684.1:g.19384589C>G | GRCh37 |
| NC_000022.9:g.17764589C>G | NCBI36 |
| NG_009231.1:g.39631G>C | |
| NG_009231.2:g.39631G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263208.5:c.494-119G>C (HIRA) MANE Select | ENSP00000263208.5:n.494-119G>C | |
| ENST00000340170.8:c.494-119G>C (HIRA) | ENSP00000345350.4:n.494-119G>C | |
| ENST00000509549.5:c.*370-119G>C (C22orf39) | ENSP00000424903.1:n.*370-119G>C | |
| NM_003325.3:c.494-119G>C (HIRA) | NP_003316.3:n.494-119G>C | |
| NM_003325.4:c.494-119G>C (HIRA) MANE Select | NP_003316.3:n.494-119G>C |