Canonical Allele Identifier: CA4368750

Gene: CYP3A5 ZSCAN25

Linked Data

• dbSNP Id: rs186648988
• ExAC: 7:99273742 C / T
• gnomAD v2: 7-99273742-C-T
• gnomAD v3: 7-99676119-C-T
• gnomAD v4: 7-99676119-C-T
• MyVariant Identifiers: chr7:g.99273742C>T (hg19) ; chr7:g.99676119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99676119C>T , CM000669.2:g.99676119C>T	GRCh38
NC_000007.13:g.99273742C>T , CM000669.1:g.99273742C>T	GRCh37
NC_000007.12:g.99111678C>T	NCBI36
NG_007938.1:g.8880G>A
NG_007938.2:g.8880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439761.3:c.161G>A (CYP3A5)	ENSP00000401269.1:p.Arg54His
ENST00000646887.1:c.161G>A (CYP3A5)	ENSP00000496704.1:p.Arg54His
ENST00000222982.8:c.161G>A (CYP3A5) MANE Select	ENSP00000222982.4:p.Arg54His
ENST00000339843.6:c.*409G>A (CYP3A5)	ENSP00000343074.2:n.*409G>A
ENST00000439761.1:c.161G>A (CYP3A5)	ENSP00000401269.1:p.Arg54His
ENST00000456417.5:c.*301G>A (CYP3A5)	ENSP00000415399.1:n.*301G>A
ENST00000461920.5:n.621G>A (CYP3A5)
ENST00000463364.5:n.231G>A (CYP3A5)
ENST00000463907.5:n.261G>A (CYP3A5)
ENST00000466061.5:n.261G>A (CYP3A5)
ENST00000469622.5:n.258G>A (CYP3A5)
ENST00000469887.5:n.458G>A (CYP3A5)
ENST00000480723.5:n.218G>A (CYP3A5)
ENST00000481825.5:n.629G>A (CYP3A5)
ENST00000489231.1:n.258G>A (CYP3A5)
NM_000777.4:c.161G>A (CYP3A5)	NP_000768.1:p.Arg54His
NM_001190484.2:c.161G>A (CYP3A5)	NP_001177413.1:p.Arg54His
NM_001291829.1:c.-311G>A (CYP3A5)	NP_001278758.1:n.-311G>A
NM_001291830.1:c.131G>A (CYP3A5)	NP_001278759.1:p.Arg44His
NR_033807.2:n.659G>A (CYP3A5)
XM_006715859.2:c.161G>A (CYP3A5)	XP_006715922.1:p.Arg54His
XM_011515843.1:c.-329G>A (CYP3A5)	XP_011514145.1:n.-329G>A
XM_011515844.1:c.-287G>A (CYP3A5)	XP_011514146.1:n.-287G>A
XM_011515845.1:c.-521G>A (CYP3A5)	XP_011514147.1:n.-521G>A
XM_011515846.1:c.-389G>A (CYP3A5)	XP_011514148.1:n.-389G>A
XM_011515847.1:c.-629G>A (CYP3A5)	XP_011514149.1:n.-629G>A
XR_927383.1:n.286G>A (CYP3A5)
XR_927402.1:n.1467-47356C>T (ZSCAN25)
NM_000777.5:c.161G>A (CYP3A5) MANE Select	NP_000768.1:p.Arg54His
XR_927402.2:n.1466-47356C>T (ZSCAN25)
NM_001190484.3:c.161G>A (CYP3A5)	NP_001177413.1:p.Arg54His
NM_001291829.2:c.-311G>A (CYP3A5)	NP_001278758.1:n.-311G>A
NM_001291830.2:c.131G>A (CYP3A5)	NP_001278759.1:p.Arg44His
NR_033807.3:n.629G>A (CYP3A5)