Linked Data
ClinVar Variation Id:
2657725
ClinVar RCV Id:
RCV003433969
dbSNP Id:
rs28383468
ExAC:
7:99273815 G / A
gnomAD v2:
7-99273815-G-A
gnomAD v3:
7-99676192-G-A
gnomAD v4:
7-99676192-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676192G>A , CM000669.2:g.99676192G>A | GRCh38 |
| NC_000007.13:g.99273815G>A , CM000669.1:g.99273815G>A | GRCh37 |
| NC_000007.12:g.99111751G>A | NCBI36 |
| NG_007938.1:g.8807C>T | |
| NG_007938.2:g.8807C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439761.3:c.88C>T (CYP3A5) | ENSP00000401269.1:p.His30Tyr | |
| ENST00000646887.1:c.88C>T (CYP3A5) | ENSP00000496704.1:p.His30Tyr | |
| ENST00000222982.8:c.88C>T (CYP3A5) MANE Select | ENSP00000222982.4:p.His30Tyr | |
| ENST00000339843.6:c.*336C>T (CYP3A5) | ENSP00000343074.2:n.*336C>T | |
| ENST00000439761.1:c.88C>T (CYP3A5) | ENSP00000401269.1:p.His30Tyr | |
| ENST00000456417.5:c.*228C>T (CYP3A5) | ENSP00000415399.1:n.*228C>T | |
| ENST00000461920.5:n.548C>T (CYP3A5) | ||
| ENST00000463364.5:n.158C>T (CYP3A5) | ||
| ENST00000463907.5:n.188C>T (CYP3A5) | ||
| ENST00000466061.5:n.188C>T (CYP3A5) | ||
| ENST00000469622.5:n.185C>T (CYP3A5) | ||
| ENST00000469887.5:n.385C>T (CYP3A5) | ||
| ENST00000480723.5:n.145C>T (CYP3A5) | ||
| ENST00000481825.5:n.556C>T (CYP3A5) | ||
| ENST00000489231.1:n.185C>T (CYP3A5) | ||
| NM_000777.4:c.88C>T (CYP3A5) | NP_000768.1:p.His30Tyr | |
| NM_001190484.2:c.88C>T (CYP3A5) | NP_001177413.1:p.His30Tyr | |
| NM_001291829.1:c.-384C>T (CYP3A5) | NP_001278758.1:n.-384C>T | |
| NM_001291830.1:c.58C>T (CYP3A5) | NP_001278759.1:p.His20Tyr | |
| NR_033807.2:n.586C>T (CYP3A5) | ||
| XM_006715859.2:c.88C>T (CYP3A5) | XP_006715922.1:p.His30Tyr | |
| XM_011515843.1:c.-402C>T (CYP3A5) | XP_011514145.1:n.-402C>T | |
| XM_011515844.1:c.-360C>T (CYP3A5) | XP_011514146.1:n.-360C>T | |
| XM_011515845.1:c.-594C>T (CYP3A5) | XP_011514147.1:n.-594C>T | |
| XM_011515846.1:c.-462C>T (CYP3A5) | XP_011514148.1:n.-462C>T | |
| XM_011515847.1:c.-702C>T (CYP3A5) | XP_011514149.1:n.-702C>T | |
| XR_927383.1:n.213C>T (CYP3A5) | ||
| XR_927402.1:n.1467-47283G>A (ZSCAN25) | ||
| NM_000777.5:c.88C>T (CYP3A5) MANE Select | NP_000768.1:p.His30Tyr | |
| XR_927402.2:n.1466-47283G>A (ZSCAN25) | ||
| NM_001190484.3:c.88C>T (CYP3A5) | NP_001177413.1:p.His30Tyr | |
| NM_001291829.2:c.-384C>T (CYP3A5) | NP_001278758.1:n.-384C>T | |
| NM_001291830.2:c.58C>T (CYP3A5) | NP_001278759.1:p.His20Tyr | |
| NR_033807.3:n.556C>T (CYP3A5) |