Linked Data
dbSNP Id:
rs776441407
ExAC:
7:99273796 A / C
gnomAD v2:
7-99273796-A-C
gnomAD v4:
7-99676173-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676173A>C , CM000669.2:g.99676173A>C | GRCh38 |
| NC_000007.13:g.99273796A>C , CM000669.1:g.99273796A>C | GRCh37 |
| NC_000007.12:g.99111732A>C | NCBI36 |
| NG_007938.1:g.8826T>G | |
| NG_007938.2:g.8826T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.107T>G (CYP3A5) | ENSP00000401269.1:p.Leu36Arg | |
| ENST00000646887.1:c.107T>G (CYP3A5) | ENSP00000496704.1:p.Leu36Arg | |
| ENST00000222982.8:c.107T>G (CYP3A5) MANE Select | ENSP00000222982.4:p.Leu36Arg | |
| ENST00000339843.6:c.*355T>G (CYP3A5) | ENSP00000343074.2:n.*355T>G | |
| ENST00000439761.1:c.107T>G (CYP3A5) | ENSP00000401269.1:p.Leu36Arg | |
| ENST00000456417.5:c.*247T>G (CYP3A5) | ENSP00000415399.1:n.*247T>G | |
| ENST00000461920.5:n.567T>G (CYP3A5) | ||
| ENST00000463364.5:n.177T>G (CYP3A5) | ||
| ENST00000463907.5:n.207T>G (CYP3A5) | ||
| ENST00000466061.5:n.207T>G (CYP3A5) | ||
| ENST00000469622.5:n.204T>G (CYP3A5) | ||
| ENST00000469887.5:n.404T>G (CYP3A5) | ||
| ENST00000480723.5:n.164T>G (CYP3A5) | ||
| ENST00000481825.5:n.575T>G (CYP3A5) | ||
| ENST00000489231.1:n.204T>G (CYP3A5) | ||
| NM_000777.4:c.107T>G (CYP3A5) | NP_000768.1:p.Leu36Arg | |
| NM_001190484.2:c.107T>G (CYP3A5) | NP_001177413.1:p.Leu36Arg | |
| NM_001291829.1:c.-365T>G (CYP3A5) | NP_001278758.1:n.-365T>G | |
| NM_001291830.1:c.77T>G (CYP3A5) | NP_001278759.1:p.Leu26Arg | |
| NR_033807.2:n.605T>G (CYP3A5) | ||
| XM_006715859.2:c.107T>G (CYP3A5) | XP_006715922.1:p.Leu36Arg | |
| XM_011515843.1:c.-383T>G (CYP3A5) | XP_011514145.1:n.-383T>G | |
| XM_011515844.1:c.-341T>G (CYP3A5) | XP_011514146.1:n.-341T>G | |
| XM_011515845.1:c.-575T>G (CYP3A5) | XP_011514147.1:n.-575T>G | |
| XM_011515846.1:c.-443T>G (CYP3A5) | XP_011514148.1:n.-443T>G | |
| XM_011515847.1:c.-683T>G (CYP3A5) | XP_011514149.1:n.-683T>G | |
| XR_927383.1:n.232T>G (CYP3A5) | ||
| XR_927402.1:n.1467-47302A>C (ZSCAN25) | ||
| NM_000777.5:c.107T>G (CYP3A5) MANE Select | NP_000768.1:p.Leu36Arg | |
| XR_927402.2:n.1466-47302A>C (ZSCAN25) | ||
| NM_001190484.3:c.107T>G (CYP3A5) | NP_001177413.1:p.Leu36Arg | |
| NM_001291829.2:c.-365T>G (CYP3A5) | NP_001278758.1:n.-365T>G | |
| NM_001291830.2:c.77T>G (CYP3A5) | NP_001278759.1:p.Leu26Arg | |
| NR_033807.3:n.575T>G (CYP3A5) |