Linked Data
dbSNP Id:
rs979438885
gnomAD v2:
7-99262875-G-C
gnomAD v3:
7-99665252-G-C
gnomAD v4:
7-99665252-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99665252G>C , CM000669.2:g.99665252G>C | GRCh38 |
| NC_000007.13:g.99262875G>C , CM000669.1:g.99262875G>C | GRCh37 |
| NC_000007.12:g.99100811G>C | NCBI36 |
| NG_007938.1:g.19747C>G | |
| NG_007938.2:g.19747C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646887.1:c.*269C>G (CYP3A5) | ENSP00000496704.1:n.*269C>G | |
| ENST00000222982.8:c.584C>G (CYP3A5) MANE Select | ENSP00000222982.4:p.Ser195Cys | |
| ENST00000339843.6:c.*983C>G (CYP3A5) | ENSP00000343074.2:n.*983C>G | |
| ENST00000461920.5:n.1176C>G (CYP3A5) | ||
| ENST00000463364.5:n.903C>G (CYP3A5) | ||
| ENST00000466061.5:n.924C>G (CYP3A5) | ||
| ENST00000469887.5:n.1032C>G (CYP3A5) | ||
| ENST00000481825.5:n.1184C>G (CYP3A5) | ||
| NM_000777.4:c.584C>G (CYP3A5) | NP_000768.1:p.Ser195Cys | |
| NM_001291829.1:c.245C>G (CYP3A5) | NP_001278758.1:p.Ser82Cys | |
| NM_001291830.1:c.554C>G (CYP3A5) | NP_001278759.1:p.Ser185Cys | |
| NR_033807.2:n.1233C>G (CYP3A5) | ||
| XM_006715859.2:c.584C>G (CYP3A5) | XP_006715922.1:p.Ser195Cys | |
| XM_011515843.1:c.245C>G (CYP3A5) | XP_011514145.1:p.Ser82Cys | |
| XM_011515844.1:c.245C>G (CYP3A5) | XP_011514146.1:p.Ser82Cys | |
| XM_011515845.1:c.44C>G (CYP3A5) | XP_011514147.1:p.Ser15Cys | |
| XM_011515846.1:c.44C>G (CYP3A5) | XP_011514148.1:p.Ser15Cys | |
| XM_011515847.1:c.44C>G (CYP3A5) | XP_011514149.1:p.Ser15Cys | |
| XM_011515909.1:c.806-3843G>C (ZSCAN25) | XP_011514211.1:n.806-3843G>C | |
| XR_927402.1:n.1466+41072G>C (ZSCAN25) | ||
| NM_000777.5:c.584C>G (CYP3A5) MANE Select | NP_000768.1:p.Ser195Cys | |
| NM_001350984.1:c.806-3843G>C (ZSCAN25) | NP_001337913.1:n.806-3843G>C | |
| NM_001350985.1:c.806-3843G>C (ZSCAN25) | NP_001337914.1:n.806-3843G>C | |
| XM_011515909.2:c.806-3843G>C (ZSCAN25) | XP_011514211.1:n.806-3843G>C | |
| XR_927402.2:n.1465+41072G>C (ZSCAN25) | ||
| NM_001291829.2:c.245C>G (CYP3A5) | NP_001278758.1:p.Ser82Cys | |
| NM_001291830.2:c.554C>G (CYP3A5) | NP_001278759.1:p.Ser185Cys | |
| NM_001350984.2:c.806-3843G>C (ZSCAN25) | NP_001337913.1:n.806-3843G>C | |
| NM_001350985.2:c.806-3843G>C (ZSCAN25) | NP_001337914.1:n.806-3843G>C | |
| NR_033807.3:n.1203C>G (CYP3A5) |