Linked Data
dbSNP Id:
rs80026734
ExAC:
7:99273755 C / T
gnomAD v3:
7-99676132-C-T
gnomAD v4:
7-99676132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676132C>T , CM000669.2:g.99676132C>T | GRCh38 |
| NC_000007.13:g.99273755C>T , CM000669.1:g.99273755C>T | GRCh37 |
| NC_000007.12:g.99111691C>T | NCBI36 |
| NG_007938.1:g.8867G>A | |
| NG_007938.2:g.8867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.148G>A (CYP3A5) | ENSP00000401269.1:p.Val50Ile | |
| ENST00000646887.1:c.148G>A (CYP3A5) | ENSP00000496704.1:p.Val50Ile | |
| ENST00000222982.8:c.148G>A (CYP3A5) MANE Select | ENSP00000222982.4:p.Val50Ile | |
| ENST00000339843.6:c.*396G>A (CYP3A5) | ENSP00000343074.2:n.*396G>A | |
| ENST00000439761.1:c.148G>A (CYP3A5) | ENSP00000401269.1:p.Val50Ile | |
| ENST00000456417.5:c.*288G>A (CYP3A5) | ENSP00000415399.1:n.*288G>A | |
| ENST00000461920.5:n.608G>A (CYP3A5) | ||
| ENST00000463364.5:n.218G>A (CYP3A5) | ||
| ENST00000463907.5:n.248G>A (CYP3A5) | ||
| ENST00000466061.5:n.248G>A (CYP3A5) | ||
| ENST00000469622.5:n.245G>A (CYP3A5) | ||
| ENST00000469887.5:n.445G>A (CYP3A5) | ||
| ENST00000480723.5:n.205G>A (CYP3A5) | ||
| ENST00000481825.5:n.616G>A (CYP3A5) | ||
| ENST00000489231.1:n.245G>A (CYP3A5) | ||
| NM_000777.4:c.148G>A (CYP3A5) | NP_000768.1:p.Val50Ile | |
| NM_001190484.2:c.148G>A (CYP3A5) | NP_001177413.1:p.Val50Ile | |
| NM_001291829.1:c.-324G>A (CYP3A5) | NP_001278758.1:n.-324G>A | |
| NM_001291830.1:c.118G>A (CYP3A5) | NP_001278759.1:p.Val40Ile | |
| NR_033807.2:n.646G>A (CYP3A5) | ||
| XM_006715859.2:c.148G>A (CYP3A5) | XP_006715922.1:p.Val50Ile | |
| XM_011515843.1:c.-342G>A (CYP3A5) | XP_011514145.1:n.-342G>A | |
| XM_011515844.1:c.-300G>A (CYP3A5) | XP_011514146.1:n.-300G>A | |
| XM_011515845.1:c.-534G>A (CYP3A5) | XP_011514147.1:n.-534G>A | |
| XM_011515846.1:c.-402G>A (CYP3A5) | XP_011514148.1:n.-402G>A | |
| XM_011515847.1:c.-642G>A (CYP3A5) | XP_011514149.1:n.-642G>A | |
| XR_927383.1:n.273G>A (CYP3A5) | ||
| XR_927402.1:n.1467-47343C>T (ZSCAN25) | ||
| NM_000777.5:c.148G>A (CYP3A5) MANE Select | NP_000768.1:p.Val50Ile | |
| XR_927402.2:n.1466-47343C>T (ZSCAN25) | ||
| NM_001190484.3:c.148G>A (CYP3A5) | NP_001177413.1:p.Val50Ile | |
| NM_001291829.2:c.-324G>A (CYP3A5) | NP_001278758.1:n.-324G>A | |
| NM_001291830.2:c.118G>A (CYP3A5) | NP_001278759.1:p.Val40Ile | |
| NR_033807.3:n.616G>A (CYP3A5) |