Revel Score:
ENST00000222982 (MANE Select)
0.107
ENST00000343703
0.107
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00156794 (EAS)
Genomes Max Group AF
0.00286577 (EAS)
Exomes Max Group AF
0.00127244 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99665237T>C , CM000669.2:g.99665237T>C | GRCh38 |
| NC_000007.13:g.99262860T>C , CM000669.1:g.99262860T>C | GRCh37 |
| NC_000007.12:g.99100796T>C | NCBI36 |
| NG_007938.1:g.19762A>G | |
| NG_007938.2:g.19762A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646887.1:c.*284A>G (CYP3A5) | ENSP00000496704.1:n.*284A>G | |
| ENST00000222982.8:c.599A>G (CYP3A5) MANE Select | ENSP00000222982.4:p.Gln200Arg | |
| ENST00000339843.6:c.*998A>G (CYP3A5) | ENSP00000343074.2:n.*998A>G | |
| ENST00000461920.5:n.1191A>G (CYP3A5) | ||
| ENST00000463364.5:n.918A>G (CYP3A5) | ||
| ENST00000466061.5:n.939A>G (CYP3A5) | ||
| ENST00000469887.5:n.1047A>G (CYP3A5) | ||
| ENST00000481825.5:n.1199A>G (CYP3A5) | ||
| NM_000777.4:c.599A>G (CYP3A5) | NP_000768.1:p.Gln200Arg | |
| NM_001291829.1:c.260A>G (CYP3A5) | NP_001278758.1:p.Gln87Arg | |
| NM_001291830.1:c.569A>G (CYP3A5) | NP_001278759.1:p.Gln190Arg | |
| NR_033807.2:n.1248A>G (CYP3A5) | ||
| XM_006715859.2:c.599A>G (CYP3A5) | XP_006715922.1:p.Gln200Arg | |
| XM_011515843.1:c.260A>G (CYP3A5) | XP_011514145.1:p.Gln87Arg | |
| XM_011515844.1:c.260A>G (CYP3A5) | XP_011514146.1:p.Gln87Arg | |
| XM_011515845.1:c.59A>G (CYP3A5) | XP_011514147.1:p.Gln20Arg | |
| XM_011515846.1:c.59A>G (CYP3A5) | XP_011514148.1:p.Gln20Arg | |
| XM_011515847.1:c.59A>G (CYP3A5) | XP_011514149.1:p.Gln20Arg | |
| XM_011515909.1:c.806-3858T>C (ZSCAN25) | XP_011514211.1:n.806-3858T>C | |
| XR_927402.1:n.1466+41057T>C (ZSCAN25) | ||
| NM_000777.5:c.599A>G (CYP3A5) MANE Select | NP_000768.1:p.Gln200Arg | |
| NM_001350984.1:c.806-3858T>C (ZSCAN25) | NP_001337913.1:n.806-3858T>C | |
| NM_001350985.1:c.806-3858T>C (ZSCAN25) | NP_001337914.1:n.806-3858T>C | |
| XM_011515909.2:c.806-3858T>C (ZSCAN25) | XP_011514211.1:n.806-3858T>C | |
| XR_927402.2:n.1465+41057T>C (ZSCAN25) | ||
| NM_001291829.2:c.260A>G (CYP3A5) | NP_001278758.1:p.Gln87Arg | |
| NM_001291830.2:c.569A>G (CYP3A5) | NP_001278759.1:p.Gln190Arg | |
| NM_001350984.2:c.806-3858T>C (ZSCAN25) | NP_001337913.1:n.806-3858T>C | |
| NM_001350985.2:c.806-3858T>C (ZSCAN25) | NP_001337914.1:n.806-3858T>C | |
| NR_033807.3:n.1218A>G (CYP3A5) |