Linked Data
dbSNP Id:
rs1377271967
gnomAD v2:
7-99273750-C-G
gnomAD v3:
7-99676127-C-G
gnomAD v4:
7-99676127-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99676127C>G , CM000669.2:g.99676127C>G | GRCh38 |
| NC_000007.13:g.99273750C>G , CM000669.1:g.99273750C>G | GRCh37 |
| NC_000007.12:g.99111686C>G | NCBI36 |
| NG_007938.1:g.8872G>C | |
| NG_007938.2:g.8872G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439761.3:c.153G>C (CYP3A5) | ENSP00000401269.1:p.Leu51Phe | |
| ENST00000646887.1:c.153G>C (CYP3A5) | ENSP00000496704.1:p.Leu51Phe | |
| ENST00000222982.8:c.153G>C (CYP3A5) MANE Select | ENSP00000222982.4:p.Leu51Phe | |
| ENST00000339843.6:c.*401G>C (CYP3A5) | ENSP00000343074.2:n.*401G>C | |
| ENST00000439761.1:c.153G>C (CYP3A5) | ENSP00000401269.1:p.Leu51Phe | |
| ENST00000456417.5:c.*293G>C (CYP3A5) | ENSP00000415399.1:n.*293G>C | |
| ENST00000461920.5:n.613G>C (CYP3A5) | ||
| ENST00000463364.5:n.223G>C (CYP3A5) | ||
| ENST00000463907.5:n.253G>C (CYP3A5) | ||
| ENST00000466061.5:n.253G>C (CYP3A5) | ||
| ENST00000469622.5:n.250G>C (CYP3A5) | ||
| ENST00000469887.5:n.450G>C (CYP3A5) | ||
| ENST00000480723.5:n.210G>C (CYP3A5) | ||
| ENST00000481825.5:n.621G>C (CYP3A5) | ||
| ENST00000489231.1:n.250G>C (CYP3A5) | ||
| NM_000777.4:c.153G>C (CYP3A5) | NP_000768.1:p.Leu51Phe | |
| NM_001190484.2:c.153G>C (CYP3A5) | NP_001177413.1:p.Leu51Phe | |
| NM_001291829.1:c.-319G>C (CYP3A5) | NP_001278758.1:n.-319G>C | |
| NM_001291830.1:c.123G>C (CYP3A5) | NP_001278759.1:p.Leu41Phe | |
| NR_033807.2:n.651G>C (CYP3A5) | ||
| XM_006715859.2:c.153G>C (CYP3A5) | XP_006715922.1:p.Leu51Phe | |
| XM_011515843.1:c.-337G>C (CYP3A5) | XP_011514145.1:n.-337G>C | |
| XM_011515844.1:c.-295G>C (CYP3A5) | XP_011514146.1:n.-295G>C | |
| XM_011515845.1:c.-529G>C (CYP3A5) | XP_011514147.1:n.-529G>C | |
| XM_011515846.1:c.-397G>C (CYP3A5) | XP_011514148.1:n.-397G>C | |
| XM_011515847.1:c.-637G>C (CYP3A5) | XP_011514149.1:n.-637G>C | |
| XR_927383.1:n.278G>C (CYP3A5) | ||
| XR_927402.1:n.1467-47348C>G (ZSCAN25) | ||
| NM_000777.5:c.153G>C (CYP3A5) MANE Select | NP_000768.1:p.Leu51Phe | |
| XR_927402.2:n.1466-47348C>G (ZSCAN25) | ||
| NM_001190484.3:c.153G>C (CYP3A5) | NP_001177413.1:p.Leu51Phe | |
| NM_001291829.2:c.-319G>C (CYP3A5) | NP_001278758.1:n.-319G>C | |
| NM_001291830.2:c.123G>C (CYP3A5) | NP_001278759.1:p.Leu41Phe | |
| NR_033807.3:n.621G>C (CYP3A5) |