gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47134173 (NFE)
Genomes Max Group AF
0.47134814 (NFE)
Exomes Max Group AF
0.24660855 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111114320G>A , CM000664.2:g.111114320G>A | GRCh38 |
| NC_000002.11:g.111871897G>A , CM000664.1:g.111871897G>A | GRCh37 |
| NC_000002.10:g.111588368G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676595.2:c.1633-3296G>A (ACOXL) | ENSP00000503683.1:n.1633-3296G>A | |
| ENST00000439055.6:c.1543-3296G>A (ACOXL) MANE Select | ENSP00000407761.1:n.1543-3296G>A | |
| ENST00000676595.1:c.1633-3296G>A (ACOXL) | ENSP00000503683.1:n.1633-3296G>A | |
| ENST00000439055.5:c.1543-3296G>A (ACOXL) | ENSP00000407761.1:n.1543-3296G>A | |
| ENST00000441974.1:c.323-3296G>A (ACOXL) | ENSP00000393823.1:n.323-3296G>A | |
| NM_001142807.1:c.1543-3296G>A (ACOXL) | NP_001136279.1:n.1543-3296G>A | |
| NR_122074.1:n.70-22C>T (ACOXL-AS1) | ||
| XM_011511404.1:c.1633-3296G>A (ACOXL) | XP_011509706.1:n.1633-3296G>A | |
| XM_011511405.1:c.1633-3296G>A (ACOXL) | XP_011509707.1:n.1633-3296G>A | |
| XM_011511406.1:c.1633-3296G>A (ACOXL) | XP_011509708.1:n.1633-3296G>A | |
| XM_011511407.1:c.1621-3296G>A (ACOXL) | XP_011509709.1:n.1621-3296G>A | |
| XM_011511408.1:c.1549-3296G>A (ACOXL) | XP_011509710.1:n.1549-3296G>A | |
| XM_011511409.1:c.1633-2625G>A (ACOXL) | XP_011509711.1:n.1633-2625G>A | |
| XM_011511411.1:c.1516-3296G>A (ACOXL) | XP_011509713.1:n.1516-3296G>A | |
| XM_011511414.1:c.1474-3296G>A (ACOXL) | XP_011509716.1:n.1474-3296G>A | |
| XM_011511420.1:c.*41-3296G>A (ACOXL) | XP_011509722.1:n.*41-3296G>A | |
| XM_011511422.1:c.*41-2625G>A (ACOXL) | XP_011509724.1:n.*41-2625G>A | |
| XM_011511432.1:c.1633-3296G>A (ACOXL) | XP_011509734.1:n.1633-3296G>A | |
| XM_011511434.1:c.772-3296G>A (ACOXL) | XP_011509736.1:n.772-3296G>A | |
| XR_922958.1:n.1891-2625G>A (ACOXL) | ||
| NM_001142807.2:c.1543-3296G>A (ACOXL) | NP_001136279.1:n.1543-3296G>A | |
| XM_011511404.3:c.1633-3296G>A (ACOXL) | XP_011509706.1:n.1633-3296G>A | |
| XM_011511405.3:c.1633-3296G>A (ACOXL) | XP_011509707.1:n.1633-3296G>A | |
| XM_011511406.3:c.1633-3296G>A (ACOXL) | XP_011509708.1:n.1633-3296G>A | |
| XM_011511407.3:c.1621-3296G>A (ACOXL) | XP_011509709.1:n.1621-3296G>A | |
| XM_011511411.3:c.1516-3296G>A (ACOXL) | XP_011509713.1:n.1516-3296G>A | |
| XM_011511414.3:c.1474-3296G>A (ACOXL) | XP_011509716.1:n.1474-3296G>A | |
| XM_011511420.2:c.*41-3296G>A (ACOXL) | XP_011509722.1:n.*41-3296G>A | |
| XM_011511432.3:c.1633-3296G>A (ACOXL) | XP_011509734.1:n.1633-3296G>A | |
| XM_011511434.3:c.772-3296G>A (ACOXL) | XP_011509736.1:n.772-3296G>A | |
| XM_017004433.2:c.904-3296G>A (ACOXL) | XP_016859922.1:n.904-3296G>A | |
| XM_017004434.2:c.772-3296G>A (ACOXL) | XP_016859923.1:n.772-3296G>A | |
| XR_001738823.2:n.1691-3296G>A (ACOXL) | ||
| NM_001142807.4:c.1543-3296G>A (ACOXL) MANE Select | NP_001136279.1:n.1543-3296G>A |