Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1995678G>A , CM000673.2:g.1995678G>A | GRCh38 |
| NC_000011.9:g.2016908G>A , CM000673.1:g.2016908G>A | GRCh37 |
| NC_000011.8:g.1973484G>A | NCBI36 |
| NG_016165.1:g.7158C>T | |
| NG_045220.1:g.8271G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001293171.2:c.*26G>A | NP_001280100.1:n.*26G>A |
| NM_001400176.1:c.498-15863G>A (MRPL23) | NP_001387105.1:n.498-15863G>A |
| NR_002196.2:n.1846C>T (H19) | |
| NR_131223.1:n.1840C>T (H19) | |
| NR_131224.1:n.737C>T (H19) | |
| XM_011520273.1:c.498-15863G>A (MRPL23) | XP_011518575.1:n.498-15863G>A |
| XM_011520274.1:c.492-15863G>A (MRPL23) | XP_011518576.1:n.492-15863G>A |
| XM_011520275.1:c.498-15863G>A (MRPL23) | XP_011518577.1:n.498-15863G>A |
| XM_011520275.2:c.498-15863G>A (MRPL23) | XP_011518577.1:n.498-15863G>A |