Canonical Allele Identifier: CA163144520
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Linked Data

dbSNP Id: rs966630695
gnomAD v2: 7-99262822-A-C
gnomAD v4: 7-99665199-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99665199A>C , CM000669.2:g.99665199A>C GRCh38
NC_000007.13:g.99262822A>C , CM000669.1:g.99262822A>C GRCh37
NC_000007.12:g.99100758A>C NCBI36
NG_007938.1:g.19800T>G
NG_007938.2:g.19800T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646887.1:c.*322T>G (CYP3A5) ENSP00000496704.1:n.*322T>G
ENST00000222982.8:c.637T>G (CYP3A5) MANE Select ENSP00000222982.4:p.Phe213Val
ENST00000339843.6:c.*1036T>G (CYP3A5) ENSP00000343074.2:n.*1036T>G
ENST00000461920.5:n.1229T>G (CYP3A5)
ENST00000463364.5:n.956T>G (CYP3A5)
ENST00000466061.5:n.977T>G (CYP3A5)
ENST00000469887.5:n.1085T>G (CYP3A5)
ENST00000481825.5:n.1237T>G (CYP3A5)
NM_000777.4:c.637T>G (CYP3A5) NP_000768.1:p.Phe213Val
NM_001291829.1:c.298T>G (CYP3A5) NP_001278758.1:p.Phe100Val
NM_001291830.1:c.607T>G (CYP3A5) NP_001278759.1:p.Phe203Val
NR_033807.2:n.1286T>G (CYP3A5)
XM_006715859.2:c.637T>G (CYP3A5) XP_006715922.1:p.Phe213Val
XM_011515843.1:c.298T>G (CYP3A5) XP_011514145.1:p.Phe100Val
XM_011515844.1:c.298T>G (CYP3A5) XP_011514146.1:p.Phe100Val
XM_011515845.1:c.97T>G (CYP3A5) XP_011514147.1:p.Phe33Val
XM_011515846.1:c.97T>G (CYP3A5) XP_011514148.1:p.Phe33Val
XM_011515847.1:c.97T>G (CYP3A5) XP_011514149.1:p.Phe33Val
XM_011515909.1:c.806-3896A>C (ZSCAN25) XP_011514211.1:n.806-3896A>C
XR_927402.1:n.1466+41019A>C (ZSCAN25)
NM_000777.5:c.637T>G (CYP3A5) MANE Select NP_000768.1:p.Phe213Val
NM_001350984.1:c.806-3896A>C (ZSCAN25) NP_001337913.1:n.806-3896A>C
NM_001350985.1:c.806-3896A>C (ZSCAN25) NP_001337914.1:n.806-3896A>C
XM_011515909.2:c.806-3896A>C (ZSCAN25) XP_011514211.1:n.806-3896A>C
XR_927402.2:n.1465+41019A>C (ZSCAN25)
NM_001291829.2:c.298T>G (CYP3A5) NP_001278758.1:p.Phe100Val
NM_001291830.2:c.607T>G (CYP3A5) NP_001278759.1:p.Phe203Val
NM_001350984.2:c.806-3896A>C (ZSCAN25) NP_001337913.1:n.806-3896A>C
NM_001350985.2:c.806-3896A>C (ZSCAN25) NP_001337914.1:n.806-3896A>C
NR_033807.3:n.1256T>G (CYP3A5)