Linked Data
gnomAD v4:
17-6996958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996958G>A , CM000679.2:g.6996958G>A | GRCh38 |
| NC_000017.10:g.6900277G>A , CM000679.1:g.6900277G>A | GRCh37 |
| NC_000017.9:g.6841001G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.268G>A (ALOX12) MANE Select | ENSP00000251535.6:p.Ala90Thr | |
| ENST00000251535.10:c.268G>A (ALOX12) | ENSP00000251535.6:p.Ala90Thr | |
| NM_000697.2:c.268G>A (ALOX12) | NP_000688.2:p.Ala90Thr | |
| NR_040089.1:n.234-11418C>T (ALOX12-AS1) | ||
| XM_011523780.1:c.625G>A (ALOX12) | XP_011522082.1:p.Ala209Thr | |
| XM_011523780.2:c.625G>A (ALOX12) | XP_011522082.1:p.Ala209Thr | |
| NM_000697.3:c.268G>A (ALOX12) MANE Select | NP_000688.2:p.Ala90Thr |