Linked Data
ClinVar Variation Id:
2479577
ClinVar RCV Id:
RCV004267788
dbSNP Id:
rs150999943
ExAC:
7:99273765 C / A
gnomAD v2:
7-99273765-C-A
gnomAD v3:
7-99676142-C-A
gnomAD v4:
7-99676142-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676142C>A , CM000669.2:g.99676142C>A | GRCh38 |
| NC_000007.13:g.99273765C>A , CM000669.1:g.99273765C>A | GRCh37 |
| NC_000007.12:g.99111701C>A | NCBI36 |
| NG_007938.1:g.8857G>T | |
| NG_007938.2:g.8857G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.138G>T (CYP3A5) | ENSP00000401269.1:p.Leu46Phe | |
| ENST00000646887.1:c.138G>T (CYP3A5) | ENSP00000496704.1:p.Leu46Phe | |
| ENST00000222982.8:c.138G>T (CYP3A5) MANE Select | ENSP00000222982.4:p.Leu46Phe | |
| ENST00000339843.6:c.*386G>T (CYP3A5) | ENSP00000343074.2:n.*386G>T | |
| ENST00000439761.1:c.138G>T (CYP3A5) | ENSP00000401269.1:p.Leu46Phe | |
| ENST00000456417.5:c.*278G>T (CYP3A5) | ENSP00000415399.1:n.*278G>T | |
| ENST00000461920.5:n.598G>T (CYP3A5) | ||
| ENST00000463364.5:n.208G>T (CYP3A5) | ||
| ENST00000463907.5:n.238G>T (CYP3A5) | ||
| ENST00000466061.5:n.238G>T (CYP3A5) | ||
| ENST00000469622.5:n.235G>T (CYP3A5) | ||
| ENST00000469887.5:n.435G>T (CYP3A5) | ||
| ENST00000480723.5:n.195G>T (CYP3A5) | ||
| ENST00000481825.5:n.606G>T (CYP3A5) | ||
| ENST00000489231.1:n.235G>T (CYP3A5) | ||
| NM_000777.4:c.138G>T (CYP3A5) | NP_000768.1:p.Leu46Phe | |
| NM_001190484.2:c.138G>T (CYP3A5) | NP_001177413.1:p.Leu46Phe | |
| NM_001291829.1:c.-334G>T (CYP3A5) | NP_001278758.1:n.-334G>T | |
| NM_001291830.1:c.108G>T (CYP3A5) | NP_001278759.1:p.Leu36Phe | |
| NR_033807.2:n.636G>T (CYP3A5) | ||
| XM_006715859.2:c.138G>T (CYP3A5) | XP_006715922.1:p.Leu46Phe | |
| XM_011515843.1:c.-352G>T (CYP3A5) | XP_011514145.1:n.-352G>T | |
| XM_011515844.1:c.-310G>T (CYP3A5) | XP_011514146.1:n.-310G>T | |
| XM_011515845.1:c.-544G>T (CYP3A5) | XP_011514147.1:n.-544G>T | |
| XM_011515846.1:c.-412G>T (CYP3A5) | XP_011514148.1:n.-412G>T | |
| XM_011515847.1:c.-652G>T (CYP3A5) | XP_011514149.1:n.-652G>T | |
| XR_927383.1:n.263G>T (CYP3A5) | ||
| XR_927402.1:n.1467-47333C>A (ZSCAN25) | ||
| NM_000777.5:c.138G>T (CYP3A5) MANE Select | NP_000768.1:p.Leu46Phe | |
| XR_927402.2:n.1466-47333C>A (ZSCAN25) | ||
| NM_001190484.3:c.138G>T (CYP3A5) | NP_001177413.1:p.Leu46Phe | |
| NM_001291829.2:c.-334G>T (CYP3A5) | NP_001278758.1:n.-334G>T | |
| NM_001291830.2:c.108G>T (CYP3A5) | NP_001278759.1:p.Leu36Phe | |
| NR_033807.3:n.606G>T (CYP3A5) |