Linked Data
dbSNP Id:
rs1460641728
gnomAD v2:
7-99273775-G-A
gnomAD v3:
7-99676152-G-A
gnomAD v4:
7-99676152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676152G>A , CM000669.2:g.99676152G>A | GRCh38 |
| NC_000007.13:g.99273775G>A , CM000669.1:g.99273775G>A | GRCh37 |
| NC_000007.12:g.99111711G>A | NCBI36 |
| NG_007938.1:g.8847C>T | |
| NG_007938.2:g.8847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.128C>T (CYP3A5) | ENSP00000401269.1:p.Pro43Leu | |
| ENST00000646887.1:c.128C>T (CYP3A5) | ENSP00000496704.1:p.Pro43Leu | |
| ENST00000222982.8:c.128C>T (CYP3A5) MANE Select | ENSP00000222982.4:p.Pro43Leu | |
| ENST00000339843.6:c.*376C>T (CYP3A5) | ENSP00000343074.2:n.*376C>T | |
| ENST00000439761.1:c.128C>T (CYP3A5) | ENSP00000401269.1:p.Pro43Leu | |
| ENST00000456417.5:c.*268C>T (CYP3A5) | ENSP00000415399.1:n.*268C>T | |
| ENST00000461920.5:n.588C>T (CYP3A5) | ||
| ENST00000463364.5:n.198C>T (CYP3A5) | ||
| ENST00000463907.5:n.228C>T (CYP3A5) | ||
| ENST00000466061.5:n.228C>T (CYP3A5) | ||
| ENST00000469622.5:n.225C>T (CYP3A5) | ||
| ENST00000469887.5:n.425C>T (CYP3A5) | ||
| ENST00000480723.5:n.185C>T (CYP3A5) | ||
| ENST00000481825.5:n.596C>T (CYP3A5) | ||
| ENST00000489231.1:n.225C>T (CYP3A5) | ||
| NM_000777.4:c.128C>T (CYP3A5) | NP_000768.1:p.Pro43Leu | |
| NM_001190484.2:c.128C>T (CYP3A5) | NP_001177413.1:p.Pro43Leu | |
| NM_001291829.1:c.-344C>T (CYP3A5) | NP_001278758.1:n.-344C>T | |
| NM_001291830.1:c.98C>T (CYP3A5) | NP_001278759.1:p.Pro33Leu | |
| NR_033807.2:n.626C>T (CYP3A5) | ||
| XM_006715859.2:c.128C>T (CYP3A5) | XP_006715922.1:p.Pro43Leu | |
| XM_011515843.1:c.-362C>T (CYP3A5) | XP_011514145.1:n.-362C>T | |
| XM_011515844.1:c.-320C>T (CYP3A5) | XP_011514146.1:n.-320C>T | |
| XM_011515845.1:c.-554C>T (CYP3A5) | XP_011514147.1:n.-554C>T | |
| XM_011515846.1:c.-422C>T (CYP3A5) | XP_011514148.1:n.-422C>T | |
| XM_011515847.1:c.-662C>T (CYP3A5) | XP_011514149.1:n.-662C>T | |
| XR_927383.1:n.253C>T (CYP3A5) | ||
| XR_927402.1:n.1467-47323G>A (ZSCAN25) | ||
| NM_000777.5:c.128C>T (CYP3A5) MANE Select | NP_000768.1:p.Pro43Leu | |
| XR_927402.2:n.1466-47323G>A (ZSCAN25) | ||
| NM_001190484.3:c.128C>T (CYP3A5) | NP_001177413.1:p.Pro43Leu | |
| NM_001291829.2:c.-344C>T (CYP3A5) | NP_001278758.1:n.-344C>T | |
| NM_001291830.2:c.98C>T (CYP3A5) | NP_001278759.1:p.Pro33Leu | |
| NR_033807.3:n.596C>T (CYP3A5) |