Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001799C>A , CM000679.2:g.7001799C>A | GRCh38 |
| NC_000017.10:g.6905118C>A , CM000679.1:g.6905118C>A | GRCh37 |
| NC_000017.9:g.6845842C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.1149C>A (ALOX12) MANE Select | ENSP00000251535.6:p.His383Gln | |
| ENST00000251535.10:c.1149C>A (ALOX12) | ENSP00000251535.6:p.His383Gln | |
| NM_000697.2:c.1149C>A (ALOX12) | NP_000688.2:p.His383Gln | |
| NR_040089.1:n.233+7997G>T (ALOX12-AS1) | ||
| XM_011523780.1:c.1299C>A (ALOX12) | XP_011522082.1:p.His433Gln | |
| XM_011523780.2:c.1299C>A (ALOX12) | XP_011522082.1:p.His433Gln | |
| NM_000697.3:c.1149C>A (ALOX12) MANE Select | NP_000688.2:p.His383Gln |