Linked Data
dbSNP Id:
rs10264272
ExAC:
7:99262835 C / T
gnomAD v2:
7-99262835-C-T
gnomAD v3:
7-99665212-C-T
gnomAD v4:
7-99665212-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99665212C>T , CM000669.2:g.99665212C>T | GRCh38 |
| NC_000007.13:g.99262835C>T , CM000669.1:g.99262835C>T | GRCh37 |
| NC_000007.12:g.99100771C>T | NCBI36 |
| NG_007938.1:g.19787G>A | |
| NG_007938.2:g.19787G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646887.1:c.*309G>A (CYP3A5) | ENSP00000496704.1:n.*309G>A | |
| ENST00000222982.8:c.624G>A (CYP3A5) MANE Select | ENSP00000222982.4:p.Lys208= | |
| ENST00000339843.6:c.*1023G>A (CYP3A5) | ENSP00000343074.2:n.*1023G>A | |
| ENST00000461920.5:n.1216G>A (CYP3A5) | ||
| ENST00000463364.5:n.943G>A (CYP3A5) | ||
| ENST00000466061.5:n.964G>A (CYP3A5) | ||
| ENST00000469887.5:n.1072G>A (CYP3A5) | ||
| ENST00000481825.5:n.1224G>A (CYP3A5) | ||
| NM_000777.4:c.624G>A (CYP3A5) | NP_000768.1:p.Lys208= | |
| NM_001291829.1:c.285G>A (CYP3A5) | NP_001278758.1:p.Lys95= | |
| NM_001291830.1:c.594G>A (CYP3A5) | NP_001278759.1:p.Lys198= | |
| NR_033807.2:n.1273G>A (CYP3A5) | ||
| XM_006715859.2:c.624G>A (CYP3A5) | XP_006715922.1:p.Lys208= | |
| XM_011515843.1:c.285G>A (CYP3A5) | XP_011514145.1:p.Lys95= | |
| XM_011515844.1:c.285G>A (CYP3A5) | XP_011514146.1:p.Lys95= | |
| XM_011515845.1:c.84G>A (CYP3A5) | XP_011514147.1:p.Lys28= | |
| XM_011515846.1:c.84G>A (CYP3A5) | XP_011514148.1:p.Lys28= | |
| XM_011515847.1:c.84G>A (CYP3A5) | XP_011514149.1:p.Lys28= | |
| XM_011515909.1:c.806-3883C>T (ZSCAN25) | XP_011514211.1:n.806-3883C>T | |
| XR_927402.1:n.1466+41032C>T (ZSCAN25) | ||
| NM_000777.5:c.624G>A (CYP3A5) MANE Select | NP_000768.1:p.Lys208= | |
| NM_001350984.1:c.806-3883C>T (ZSCAN25) | NP_001337913.1:n.806-3883C>T | |
| NM_001350985.1:c.806-3883C>T (ZSCAN25) | NP_001337914.1:n.806-3883C>T | |
| XM_011515909.2:c.806-3883C>T (ZSCAN25) | XP_011514211.1:n.806-3883C>T | |
| XR_927402.2:n.1465+41032C>T (ZSCAN25) | ||
| NM_001291829.2:c.285G>A (CYP3A5) | NP_001278758.1:p.Lys95= | |
| NM_001291830.2:c.594G>A (CYP3A5) | NP_001278759.1:p.Lys198= | |
| NM_001350984.2:c.806-3883C>T (ZSCAN25) | NP_001337913.1:n.806-3883C>T | |
| NM_001350985.2:c.806-3883C>T (ZSCAN25) | NP_001337914.1:n.806-3883C>T | |
| NR_033807.3:n.1243G>A (CYP3A5) |