Canonical Allele Identifier: CA4368583

Gene: CYP3A5 ZSCAN25

Linked Data

• dbSNP Id: rs147489136
• ExAC: 7:99262851 A / C
• gnomAD v2: 7-99262851-A-C
• gnomAD v3: 7-99665228-A-C
• gnomAD v4: 7-99665228-A-C
• MyVariant Identifiers: chr7:g.99262851A>C (hg19) ; chr7:g.99665228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99665228A>C , CM000669.2:g.99665228A>C	GRCh38
NC_000007.13:g.99262851A>C , CM000669.1:g.99262851A>C	GRCh37
NC_000007.12:g.99100787A>C	NCBI36
NG_007938.1:g.19771T>G
NG_007938.2:g.19771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646887.1:c.*293T>G (CYP3A5)	ENSP00000496704.1:n.*293T>G
ENST00000222982.8:c.608T>G (CYP3A5) MANE Select	ENSP00000222982.4:p.Phe203Cys
ENST00000339843.6:c.*1007T>G (CYP3A5)	ENSP00000343074.2:n.*1007T>G
ENST00000461920.5:n.1200T>G (CYP3A5)
ENST00000463364.5:n.927T>G (CYP3A5)
ENST00000466061.5:n.948T>G (CYP3A5)
ENST00000469887.5:n.1056T>G (CYP3A5)
ENST00000481825.5:n.1208T>G (CYP3A5)
NM_000777.4:c.608T>G (CYP3A5)	NP_000768.1:p.Phe203Cys
NM_001291829.1:c.269T>G (CYP3A5)	NP_001278758.1:p.Phe90Cys
NM_001291830.1:c.578T>G (CYP3A5)	NP_001278759.1:p.Phe193Cys
NR_033807.2:n.1257T>G (CYP3A5)
XM_006715859.2:c.608T>G (CYP3A5)	XP_006715922.1:p.Phe203Cys
XM_011515843.1:c.269T>G (CYP3A5)	XP_011514145.1:p.Phe90Cys
XM_011515844.1:c.269T>G (CYP3A5)	XP_011514146.1:p.Phe90Cys
XM_011515845.1:c.68T>G (CYP3A5)	XP_011514147.1:p.Phe23Cys
XM_011515846.1:c.68T>G (CYP3A5)	XP_011514148.1:p.Phe23Cys
XM_011515847.1:c.68T>G (CYP3A5)	XP_011514149.1:p.Phe23Cys
XM_011515909.1:c.806-3867A>C (ZSCAN25)	XP_011514211.1:n.806-3867A>C
XR_927402.1:n.1466+41048A>C (ZSCAN25)
NM_000777.5:c.608T>G (CYP3A5) MANE Select	NP_000768.1:p.Phe203Cys
NM_001350984.1:c.806-3867A>C (ZSCAN25)	NP_001337913.1:n.806-3867A>C
NM_001350985.1:c.806-3867A>C (ZSCAN25)	NP_001337914.1:n.806-3867A>C
XM_011515909.2:c.806-3867A>C (ZSCAN25)	XP_011514211.1:n.806-3867A>C
XR_927402.2:n.1465+41048A>C (ZSCAN25)
NM_001291829.2:c.269T>G (CYP3A5)	NP_001278758.1:p.Phe90Cys
NM_001291830.2:c.578T>G (CYP3A5)	NP_001278759.1:p.Phe193Cys
NM_001350984.2:c.806-3867A>C (ZSCAN25)	NP_001337913.1:n.806-3867A>C
NM_001350985.2:c.806-3867A>C (ZSCAN25)	NP_001337914.1:n.806-3867A>C
NR_033807.3:n.1227T>G (CYP3A5)