Linked Data
dbSNP Id:
rs15524
ExAC:
7:99245914 A / G
gnomAD v2:
7-99245914-A-G
gnomAD v3:
7-99648291-A-G
gnomAD v4:
7-99648291-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99648291A>G , CM000669.2:g.99648291A>G | GRCh38 |
| NC_000007.13:g.99245914A>G , CM000669.1:g.99245914A>G | GRCh37 |
| NC_000007.12:g.99083850A>G | NCBI36 |
| NG_007938.1:g.36708T>C | |
| NG_007938.2:g.36708T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646887.1:c.*1208T>C (CYP3A5) | ENSP00000496704.1:n.*1208T>C | |
| ENST00000222982.8:c.*14T>C (CYP3A5) MANE Select | ENSP00000222982.4:n.*14T>C | |
| ENST00000339843.6:c.*3007T>C (CYP3A5) | ENSP00000343074.2:n.*3007T>C | |
| ENST00000461920.5:n.2115T>C (CYP3A5) | ||
| ENST00000469887.5:n.3056T>C (CYP3A5) | ||
| NM_000777.4:c.*14T>C (CYP3A5) | NP_000768.1:n.*14T>C | |
| NM_001291829.1:c.*14T>C (CYP3A5) | NP_001278758.1:n.*14T>C | |
| NM_001291830.1:c.*14T>C (CYP3A5) | NP_001278759.1:n.*14T>C | |
| NR_033807.2:n.3257T>C (CYP3A5) | ||
| XM_011515843.1:c.*14T>C (CYP3A5) | XP_011514145.1:n.*14T>C | |
| XM_011515844.1:c.*14T>C (CYP3A5) | XP_011514146.1:n.*14T>C | |
| XM_011515845.1:c.*14T>C (CYP3A5) | XP_011514147.1:n.*14T>C | |
| XM_011515846.1:c.*14T>C (CYP3A5) | XP_011514148.1:n.*14T>C | |
| XM_011515847.1:c.*14T>C (CYP3A5) | XP_011514149.1:n.*14T>C | |
| XM_011515909.1:c.806-20804A>G (ZSCAN25) | XP_011514211.1:n.806-20804A>G | |
| XR_927402.1:n.1466+24111A>G (ZSCAN25) | ||
| NM_000777.5:c.*14T>C (CYP3A5) MANE Select | NP_000768.1:n.*14T>C | |
| NM_001350984.1:c.806-20804A>G (ZSCAN25) | NP_001337913.1:n.806-20804A>G | |
| NM_001350985.1:c.806-20804A>G (ZSCAN25) | NP_001337914.1:n.806-20804A>G | |
| XM_011515909.2:c.806-20804A>G (ZSCAN25) | XP_011514211.1:n.806-20804A>G | |
| XR_927402.2:n.1465+24111A>G (ZSCAN25) | ||
| NM_001291829.2:c.*14T>C (CYP3A5) | NP_001278758.1:n.*14T>C | |
| NM_001291830.2:c.*14T>C (CYP3A5) | NP_001278759.1:n.*14T>C | |
| NM_001350984.2:c.806-20804A>G (ZSCAN25) | NP_001337913.1:n.806-20804A>G | |
| NM_001350985.2:c.806-20804A>G (ZSCAN25) | NP_001337914.1:n.806-20804A>G | |
| NR_033807.3:n.3227T>C (CYP3A5) |