Linked Data
dbSNP Id:
rs767504862
ExAC:
7:99262858 C / G
gnomAD v2:
7-99262858-C-G
gnomAD v4:
7-99665235-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99665235C>G , CM000669.2:g.99665235C>G | GRCh38 |
| NC_000007.13:g.99262858C>G , CM000669.1:g.99262858C>G | GRCh37 |
| NC_000007.12:g.99100794C>G | NCBI36 |
| NG_007938.1:g.19764G>C | |
| NG_007938.2:g.19764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646887.1:c.*286G>C (CYP3A5) | ENSP00000496704.1:n.*286G>C | |
| ENST00000222982.8:c.601G>C (CYP3A5) MANE Select | ENSP00000222982.4:p.Asp201His | |
| ENST00000339843.6:c.*1000G>C (CYP3A5) | ENSP00000343074.2:n.*1000G>C | |
| ENST00000461920.5:n.1193G>C (CYP3A5) | ||
| ENST00000463364.5:n.920G>C (CYP3A5) | ||
| ENST00000466061.5:n.941G>C (CYP3A5) | ||
| ENST00000469887.5:n.1049G>C (CYP3A5) | ||
| ENST00000481825.5:n.1201G>C (CYP3A5) | ||
| NM_000777.4:c.601G>C (CYP3A5) | NP_000768.1:p.Asp201His | |
| NM_001291829.1:c.262G>C (CYP3A5) | NP_001278758.1:p.Asp88His | |
| NM_001291830.1:c.571G>C (CYP3A5) | NP_001278759.1:p.Asp191His | |
| NR_033807.2:n.1250G>C (CYP3A5) | ||
| XM_006715859.2:c.601G>C (CYP3A5) | XP_006715922.1:p.Asp201His | |
| XM_011515843.1:c.262G>C (CYP3A5) | XP_011514145.1:p.Asp88His | |
| XM_011515844.1:c.262G>C (CYP3A5) | XP_011514146.1:p.Asp88His | |
| XM_011515845.1:c.61G>C (CYP3A5) | XP_011514147.1:p.Asp21His | |
| XM_011515846.1:c.61G>C (CYP3A5) | XP_011514148.1:p.Asp21His | |
| XM_011515847.1:c.61G>C (CYP3A5) | XP_011514149.1:p.Asp21His | |
| XM_011515909.1:c.806-3860C>G (ZSCAN25) | XP_011514211.1:n.806-3860C>G | |
| XR_927402.1:n.1466+41055C>G (ZSCAN25) | ||
| NM_000777.5:c.601G>C (CYP3A5) MANE Select | NP_000768.1:p.Asp201His | |
| NM_001350984.1:c.806-3860C>G (ZSCAN25) | NP_001337913.1:n.806-3860C>G | |
| NM_001350985.1:c.806-3860C>G (ZSCAN25) | NP_001337914.1:n.806-3860C>G | |
| XM_011515909.2:c.806-3860C>G (ZSCAN25) | XP_011514211.1:n.806-3860C>G | |
| XR_927402.2:n.1465+41055C>G (ZSCAN25) | ||
| NM_001291829.2:c.262G>C (CYP3A5) | NP_001278758.1:p.Asp88His | |
| NM_001291830.2:c.571G>C (CYP3A5) | NP_001278759.1:p.Asp191His | |
| NM_001350984.2:c.806-3860C>G (ZSCAN25) | NP_001337913.1:n.806-3860C>G | |
| NM_001350985.2:c.806-3860C>G (ZSCAN25) | NP_001337914.1:n.806-3860C>G | |
| NR_033807.3:n.1220G>C (CYP3A5) |