Linked Data
dbSNP Id:
rs751289723
ExAC:
7:99273840 T / A
gnomAD v2:
7-99273840-T-A
gnomAD v4:
7-99676217-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676217T>A , CM000669.2:g.99676217T>A | GRCh38 |
| NC_000007.13:g.99273840T>A , CM000669.1:g.99273840T>A | GRCh37 |
| NC_000007.12:g.99111776T>A | NCBI36 |
| NG_007938.1:g.8782A>T | |
| NG_007938.2:g.8782A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.72-9A>T (CYP3A5) | ENSP00000401269.1:n.72-9A>T | |
| ENST00000646887.1:c.72-9A>T (CYP3A5) | ENSP00000496704.1:n.72-9A>T | |
| ENST00000222982.8:c.72-9A>T (CYP3A5) MANE Select | ENSP00000222982.4:n.72-9A>T | |
| ENST00000339843.6:c.*311A>T (CYP3A5) | ENSP00000343074.2:n.*311A>T | |
| ENST00000439761.1:c.72-9A>T (CYP3A5) | ENSP00000401269.1:n.72-9A>T | |
| ENST00000456417.5:c.*212-9A>T (CYP3A5) | ENSP00000415399.1:n.*212-9A>T | |
| ENST00000461920.5:n.523A>T (CYP3A5) | ||
| ENST00000463364.5:n.142-9A>T (CYP3A5) | ||
| ENST00000463907.5:n.172-9A>T (CYP3A5) | ||
| ENST00000466061.5:n.172-9A>T (CYP3A5) | ||
| ENST00000469622.5:n.169-9A>T (CYP3A5) | ||
| ENST00000469887.5:n.360A>T (CYP3A5) | ||
| ENST00000480723.5:n.129-9A>T (CYP3A5) | ||
| ENST00000481825.5:n.531A>T (CYP3A5) | ||
| ENST00000489231.1:n.169-9A>T (CYP3A5) | ||
| NM_000777.4:c.72-9A>T (CYP3A5) | NP_000768.1:n.72-9A>T | |
| NM_001190484.2:c.72-9A>T (CYP3A5) | NP_001177413.1:n.72-9A>T | |
| NM_001291829.1:c.-409A>T (CYP3A5) | NP_001278758.1:n.-409A>T | |
| NM_001291830.1:c.42-9A>T (CYP3A5) | NP_001278759.1:n.42-9A>T | |
| NR_033807.2:n.561A>T (CYP3A5) | ||
| XM_006715859.2:c.72-9A>T (CYP3A5) | XP_006715922.1:n.72-9A>T | |
| XM_011515843.1:c.-418-9A>T (CYP3A5) | XP_011514145.1:n.-418-9A>T | |
| XM_011515844.1:c.-376-9A>T (CYP3A5) | XP_011514146.1:n.-376-9A>T | |
| XM_011515845.1:c.-610-9A>T (CYP3A5) | XP_011514147.1:n.-610-9A>T | |
| XM_011515846.1:c.-478-9A>T (CYP3A5) | XP_011514148.1:n.-478-9A>T | |
| XM_011515847.1:c.-718-9A>T (CYP3A5) | XP_011514149.1:n.-718-9A>T | |
| XR_927383.1:n.197-9A>T (CYP3A5) | ||
| XR_927402.1:n.1467-47258T>A (ZSCAN25) | ||
| NM_000777.5:c.72-9A>T (CYP3A5) MANE Select | NP_000768.1:n.72-9A>T | |
| XR_927402.2:n.1466-47258T>A (ZSCAN25) | ||
| NM_001190484.3:c.72-9A>T (CYP3A5) | NP_001177413.1:n.72-9A>T | |
| NM_001291829.2:c.-409A>T (CYP3A5) | NP_001278758.1:n.-409A>T | |
| NM_001291830.2:c.42-9A>T (CYP3A5) | NP_001278759.1:n.42-9A>T | |
| NR_033807.3:n.531A>T (CYP3A5) |