Linked Data
dbSNP Id:
rs41279857
ExAC:
7:99270222 G / T
gnomAD v2:
7-99270222-G-T
gnomAD v3:
7-99672599-G-T
gnomAD v4:
7-99672599-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99672599G>T , CM000669.2:g.99672599G>T | GRCh38 |
| NC_000007.13:g.99270222G>T , CM000669.1:g.99270222G>T | GRCh37 |
| NC_000007.12:g.99108158G>T | NCBI36 |
| NG_007938.1:g.12400C>A | |
| NG_007938.2:g.12400C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439761.3:c.299C>A (CYP3A5) | ENSP00000401269.1:p.Ser100Tyr | |
| ENST00000646887.1:c.299C>A (CYP3A5) | ENSP00000496704.1:p.Ser100Tyr | |
| ENST00000222982.8:c.299C>A (CYP3A5) MANE Select | ENSP00000222982.4:p.Ser100Tyr | |
| ENST00000339843.6:c.*698C>A (CYP3A5) | ENSP00000343074.2:n.*698C>A | |
| ENST00000439761.1:c.299C>A (CYP3A5) | ENSP00000401269.1:p.Ser100Tyr | |
| ENST00000461920.5:n.891C>A (CYP3A5) | ||
| ENST00000463364.5:n.501C>A (CYP3A5) | ||
| ENST00000463907.5:n.635C>A (CYP3A5) | ||
| ENST00000466061.5:n.531C>A (CYP3A5) | ||
| ENST00000469622.5:n.546C>A (CYP3A5) | ||
| ENST00000469887.5:n.747C>A (CYP3A5) | ||
| ENST00000480723.5:n.356C>A (CYP3A5) | ||
| ENST00000481825.5:n.899C>A (CYP3A5) | ||
| NM_000777.4:c.299C>A (CYP3A5) | NP_000768.1:p.Ser100Tyr | |
| NM_001190484.2:c.299C>A (CYP3A5) | NP_001177413.1:p.Ser100Tyr | |
| NM_001291829.1:c.-41C>A (CYP3A5) | NP_001278758.1:n.-41C>A | |
| NM_001291830.1:c.269C>A (CYP3A5) | NP_001278759.1:p.Ser90Tyr | |
| NR_033807.2:n.948C>A (CYP3A5) | ||
| XM_006715859.2:c.299C>A (CYP3A5) | XP_006715922.1:p.Ser100Tyr | |
| XM_011515843.1:c.-41C>A (CYP3A5) | XP_011514145.1:n.-41C>A | |
| XM_011515844.1:c.-149C>A (CYP3A5) | XP_011514146.1:n.-149C>A | |
| XM_011515845.1:c.-251C>A (CYP3A5) | XP_011514147.1:n.-251C>A | |
| XM_011515846.1:c.-251C>A (CYP3A5) | XP_011514148.1:n.-251C>A | |
| XM_011515847.1:c.-359C>A (CYP3A5) | XP_011514149.1:n.-359C>A | |
| XR_927383.1:n.424C>A (CYP3A5) | ||
| XR_927402.1:n.1466+48419G>T (ZSCAN25) | ||
| NM_000777.5:c.299C>A (CYP3A5) MANE Select | NP_000768.1:p.Ser100Tyr | |
| XR_927402.2:n.1465+48419G>T (ZSCAN25) | ||
| NM_001190484.3:c.299C>A (CYP3A5) | NP_001177413.1:p.Ser100Tyr | |
| NM_001291829.2:c.-41C>A (CYP3A5) | NP_001278758.1:n.-41C>A | |
| NM_001291830.2:c.269C>A (CYP3A5) | NP_001278759.1:p.Ser90Tyr | |
| NR_033807.3:n.918C>A (CYP3A5) |