Linked Data
dbSNP Id:
rs769315225
ExAC:
7:99273820 C / T
gnomAD v2:
7-99273820-C-T
gnomAD v4:
7-99676197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676197C>T , CM000669.2:g.99676197C>T | GRCh38 |
| NC_000007.13:g.99273820C>T , CM000669.1:g.99273820C>T | GRCh37 |
| NC_000007.12:g.99111756C>T | NCBI36 |
| NG_007938.1:g.8802G>A | |
| NG_007938.2:g.8802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.83G>A (CYP3A5) | ENSP00000401269.1:p.Arg28His | |
| ENST00000646887.1:c.83G>A (CYP3A5) | ENSP00000496704.1:p.Arg28His | |
| ENST00000222982.8:c.83G>A (CYP3A5) MANE Select | ENSP00000222982.4:p.Arg28His | |
| ENST00000339843.6:c.*331G>A (CYP3A5) | ENSP00000343074.2:n.*331G>A | |
| ENST00000439761.1:c.83G>A (CYP3A5) | ENSP00000401269.1:p.Arg28His | |
| ENST00000456417.5:c.*223G>A (CYP3A5) | ENSP00000415399.1:n.*223G>A | |
| ENST00000461920.5:n.543G>A (CYP3A5) | ||
| ENST00000463364.5:n.153G>A (CYP3A5) | ||
| ENST00000463907.5:n.183G>A (CYP3A5) | ||
| ENST00000466061.5:n.183G>A (CYP3A5) | ||
| ENST00000469622.5:n.180G>A (CYP3A5) | ||
| ENST00000469887.5:n.380G>A (CYP3A5) | ||
| ENST00000480723.5:n.140G>A (CYP3A5) | ||
| ENST00000481825.5:n.551G>A (CYP3A5) | ||
| ENST00000489231.1:n.180G>A (CYP3A5) | ||
| NM_000777.4:c.83G>A (CYP3A5) | NP_000768.1:p.Arg28His | |
| NM_001190484.2:c.83G>A (CYP3A5) | NP_001177413.1:p.Arg28His | |
| NM_001291829.1:c.-389G>A (CYP3A5) | NP_001278758.1:n.-389G>A | |
| NM_001291830.1:c.53G>A (CYP3A5) | NP_001278759.1:p.Arg18His | |
| NR_033807.2:n.581G>A (CYP3A5) | ||
| XM_006715859.2:c.83G>A (CYP3A5) | XP_006715922.1:p.Arg28His | |
| XM_011515843.1:c.-407G>A (CYP3A5) | XP_011514145.1:n.-407G>A | |
| XM_011515844.1:c.-365G>A (CYP3A5) | XP_011514146.1:n.-365G>A | |
| XM_011515845.1:c.-599G>A (CYP3A5) | XP_011514147.1:n.-599G>A | |
| XM_011515846.1:c.-467G>A (CYP3A5) | XP_011514148.1:n.-467G>A | |
| XM_011515847.1:c.-707G>A (CYP3A5) | XP_011514149.1:n.-707G>A | |
| XR_927383.1:n.208G>A (CYP3A5) | ||
| XR_927402.1:n.1467-47278C>T (ZSCAN25) | ||
| NM_000777.5:c.83G>A (CYP3A5) MANE Select | NP_000768.1:p.Arg28His | |
| XR_927402.2:n.1466-47278C>T (ZSCAN25) | ||
| NM_001190484.3:c.83G>A (CYP3A5) | NP_001177413.1:p.Arg28His | |
| NM_001291829.2:c.-389G>A (CYP3A5) | NP_001278758.1:n.-389G>A | |
| NM_001291830.2:c.53G>A (CYP3A5) | NP_001278759.1:p.Arg18His | |
| NR_033807.3:n.551G>A (CYP3A5) |