Linked Data
dbSNP Id:
rs41279854
ExAC:
7:99247772 A / G
gnomAD v2:
7-99247772-A-G
gnomAD v3:
7-99650149-A-G
gnomAD v4:
7-99650149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99650149A>G , CM000669.2:g.99650149A>G | GRCh38 |
| NC_000007.13:g.99247772A>G , CM000669.1:g.99247772A>G | GRCh37 |
| NC_000007.12:g.99085708A>G | NCBI36 |
| NG_007938.1:g.34850T>C | |
| NG_007938.2:g.34850T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646887.1:c.*1022T>C (CYP3A5) | ENSP00000496704.1:n.*1022T>C | |
| ENST00000222982.8:c.1337T>C (CYP3A5) MANE Select | ENSP00000222982.4:p.Phe446Ser | |
| ENST00000339843.6:c.*2821T>C (CYP3A5) | ENSP00000343074.2:n.*2821T>C | |
| ENST00000461920.5:n.1929T>C (CYP3A5) | ||
| ENST00000469887.5:n.2870T>C (CYP3A5) | ||
| NM_000777.4:c.1337T>C (CYP3A5) | NP_000768.1:p.Phe446Ser | |
| NM_001291829.1:c.998T>C (CYP3A5) | NP_001278758.1:p.Phe333Ser | |
| NM_001291830.1:c.1307T>C (CYP3A5) | NP_001278759.1:p.Phe436Ser | |
| NR_033807.2:n.3071T>C (CYP3A5) | ||
| XM_011515843.1:c.998T>C (CYP3A5) | XP_011514145.1:p.Phe333Ser | |
| XM_011515844.1:c.998T>C (CYP3A5) | XP_011514146.1:p.Phe333Ser | |
| XM_011515845.1:c.797T>C (CYP3A5) | XP_011514147.1:p.Phe266Ser | |
| XM_011515846.1:c.797T>C (CYP3A5) | XP_011514148.1:p.Phe266Ser | |
| XM_011515847.1:c.797T>C (CYP3A5) | XP_011514149.1:p.Phe266Ser | |
| XM_011515909.1:c.806-18946A>G (ZSCAN25) | XP_011514211.1:n.806-18946A>G | |
| XR_927402.1:n.1466+25969A>G (ZSCAN25) | ||
| NM_000777.5:c.1337T>C (CYP3A5) MANE Select | NP_000768.1:p.Phe446Ser | |
| NM_001350984.1:c.806-18946A>G (ZSCAN25) | NP_001337913.1:n.806-18946A>G | |
| NM_001350985.1:c.806-18946A>G (ZSCAN25) | NP_001337914.1:n.806-18946A>G | |
| XM_011515909.2:c.806-18946A>G (ZSCAN25) | XP_011514211.1:n.806-18946A>G | |
| XR_927402.2:n.1465+25969A>G (ZSCAN25) | ||
| NM_001291829.2:c.998T>C (CYP3A5) | NP_001278758.1:p.Phe333Ser | |
| NM_001291830.2:c.1307T>C (CYP3A5) | NP_001278759.1:p.Phe436Ser | |
| NM_001350984.2:c.806-18946A>G (ZSCAN25) | NP_001337913.1:n.806-18946A>G | |
| NM_001350985.2:c.806-18946A>G (ZSCAN25) | NP_001337914.1:n.806-18946A>G | |
| NR_033807.3:n.3041T>C (CYP3A5) |