Revel Score:
ENST00000222982 (MANE Select)
0.058
ENST00000343703
0.058
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000298 (EAS)
Genomes Max Group AF
0.00006852 (EAS)
Exomes Max Group AF
0.00000836 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99660516C>T , CM000669.2:g.99660516C>T | GRCh38 |
| NC_000007.13:g.99258139C>T , CM000669.1:g.99258139C>T | GRCh37 |
| NC_000007.12:g.99096075C>T | NCBI36 |
| NG_007938.1:g.24483G>A | |
| NG_007938.2:g.24483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646887.1:c.*694G>A (CYP3A5) | ENSP00000496704.1:n.*694G>A | |
| ENST00000222982.8:c.1009G>A (CYP3A5) MANE Select | ENSP00000222982.4:p.Ala337Thr | |
| ENST00000339843.6:c.*2493G>A (CYP3A5) | ENSP00000343074.2:n.*2493G>A | |
| ENST00000461920.5:n.1601G>A (CYP3A5) | ||
| ENST00000463364.5:n.1328G>A (CYP3A5) | ||
| ENST00000469887.5:n.2542G>A (CYP3A5) | ||
| ENST00000473347.1:n.911G>A (CYP3A5) | ||
| ENST00000481825.5:n.2694G>A (CYP3A5) | ||
| ENST00000488187.1:n.87G>A (CYP3A5) | ||
| NM_000777.4:c.1009G>A (CYP3A5) | NP_000768.1:p.Ala337Thr | |
| NM_001291829.1:c.670G>A (CYP3A5) | NP_001278758.1:p.Ala224Thr | |
| NM_001291830.1:c.979G>A (CYP3A5) | NP_001278759.1:p.Ala327Thr | |
| NR_033807.2:n.2743G>A (CYP3A5) | ||
| XM_006715859.2:c.1009G>A (CYP3A5) | XP_006715922.1:p.Ala337Thr | |
| XM_011515843.1:c.670G>A (CYP3A5) | XP_011514145.1:p.Ala224Thr | |
| XM_011515844.1:c.670G>A (CYP3A5) | XP_011514146.1:p.Ala224Thr | |
| XM_011515845.1:c.469G>A (CYP3A5) | XP_011514147.1:p.Ala157Thr | |
| XM_011515846.1:c.469G>A (CYP3A5) | XP_011514148.1:p.Ala157Thr | |
| XM_011515847.1:c.469G>A (CYP3A5) | XP_011514149.1:p.Ala157Thr | |
| XM_011515909.1:c.806-8579C>T (ZSCAN25) | XP_011514211.1:n.806-8579C>T | |
| XR_927402.1:n.1466+36336C>T (ZSCAN25) | ||
| NM_000777.5:c.1009G>A (CYP3A5) MANE Select | NP_000768.1:p.Ala337Thr | |
| NM_001350984.1:c.806-8579C>T (ZSCAN25) | NP_001337913.1:n.806-8579C>T | |
| NM_001350985.1:c.806-8579C>T (ZSCAN25) | NP_001337914.1:n.806-8579C>T | |
| XM_011515909.2:c.806-8579C>T (ZSCAN25) | XP_011514211.1:n.806-8579C>T | |
| XR_927402.2:n.1465+36336C>T (ZSCAN25) | ||
| NM_001291829.2:c.670G>A (CYP3A5) | NP_001278758.1:p.Ala224Thr | |
| NM_001291830.2:c.979G>A (CYP3A5) | NP_001278759.1:p.Ala327Thr | |
| NM_001350984.2:c.806-8579C>T (ZSCAN25) | NP_001337913.1:n.806-8579C>T | |
| NM_001350985.2:c.806-8579C>T (ZSCAN25) | NP_001337914.1:n.806-8579C>T | |
| NR_033807.3:n.2713G>A (CYP3A5) |