Canonical Allele Identifier: CA4368584
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Linked Data

dbSNP Id: rs767504862
gnomAD v2: 7-99262858-C-G
gnomAD v4: 7-99665235-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99665235C>G , CM000669.2:g.99665235C>G GRCh38
NC_000007.13:g.99262858C>G , CM000669.1:g.99262858C>G GRCh37
NC_000007.12:g.99100794C>G NCBI36
NG_007938.1:g.19764G>C
NG_007938.2:g.19764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646887.1:c.*286G>C (CYP3A5) ENSP00000496704.1:n.*286G>C
ENST00000222982.8:c.601G>C (CYP3A5) MANE Select ENSP00000222982.4:p.Asp201His
ENST00000339843.6:c.*1000G>C (CYP3A5) ENSP00000343074.2:n.*1000G>C
ENST00000461920.5:n.1193G>C (CYP3A5)
ENST00000463364.5:n.920G>C (CYP3A5)
ENST00000466061.5:n.941G>C (CYP3A5)
ENST00000469887.5:n.1049G>C (CYP3A5)
ENST00000481825.5:n.1201G>C (CYP3A5)
NM_000777.4:c.601G>C (CYP3A5) NP_000768.1:p.Asp201His
NM_001291829.1:c.262G>C (CYP3A5) NP_001278758.1:p.Asp88His
NM_001291830.1:c.571G>C (CYP3A5) NP_001278759.1:p.Asp191His
NR_033807.2:n.1250G>C (CYP3A5)
XM_006715859.2:c.601G>C (CYP3A5) XP_006715922.1:p.Asp201His
XM_011515843.1:c.262G>C (CYP3A5) XP_011514145.1:p.Asp88His
XM_011515844.1:c.262G>C (CYP3A5) XP_011514146.1:p.Asp88His
XM_011515845.1:c.61G>C (CYP3A5) XP_011514147.1:p.Asp21His
XM_011515846.1:c.61G>C (CYP3A5) XP_011514148.1:p.Asp21His
XM_011515847.1:c.61G>C (CYP3A5) XP_011514149.1:p.Asp21His
XM_011515909.1:c.806-3860C>G (ZSCAN25) XP_011514211.1:n.806-3860C>G
XR_927402.1:n.1466+41055C>G (ZSCAN25)
NM_000777.5:c.601G>C (CYP3A5) MANE Select NP_000768.1:p.Asp201His
NM_001350984.1:c.806-3860C>G (ZSCAN25) NP_001337913.1:n.806-3860C>G
NM_001350985.1:c.806-3860C>G (ZSCAN25) NP_001337914.1:n.806-3860C>G
XM_011515909.2:c.806-3860C>G (ZSCAN25) XP_011514211.1:n.806-3860C>G
XR_927402.2:n.1465+41055C>G (ZSCAN25)
NM_001291829.2:c.262G>C (CYP3A5) NP_001278758.1:p.Asp88His
NM_001291830.2:c.571G>C (CYP3A5) NP_001278759.1:p.Asp191His
NM_001350984.2:c.806-3860C>G (ZSCAN25) NP_001337913.1:n.806-3860C>G
NM_001350985.2:c.806-3860C>G (ZSCAN25) NP_001337914.1:n.806-3860C>G
NR_033807.3:n.1220G>C (CYP3A5)