Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19359312G>A , CM000684.2:g.19359312G>A | GRCh38 |
| NC_000022.10:g.19346835G>A , CM000684.1:g.19346835G>A | GRCh37 |
| NC_000022.9:g.17726835G>A | NCBI36 |
| NG_009231.1:g.77385C>T | |
| NG_009231.2:g.77385C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003325.4:c.2234+24C>T (HIRA) MANE Select | NP_003316.3:n.2234+24C>T |
| ENST00000263208.5:c.2234+24C>T (HIRA) MANE Select | ENSP00000263208.5:n.2234+24C>T |
| NM_003325.3:c.2234+24C>T (HIRA) | NP_003316.3:n.2234+24C>T |
| ENST00000340170.8:c.1776-3024C>T (HIRA) | ENSP00000345350.4:n.1776-3024C>T |
| ENST00000509549.5:c.*2110+24C>T (C22orf39) | ENSP00000424903.1:n.*2110+24C>T |