Canonical Allele Identifier: CA198540

Gene: CYP3A5 ZSCAN25

Linked Data

• ClinVar Variation Id: 187819
• ClinVar RCV Id: RCV000167563
• dbSNP Id: rs4646450
• gnomAD v2: 7-99266318-G-A
• gnomAD v3: 7-99668695-G-A
• gnomAD v4: 7-99668695-G-A
• MyVariant Identifiers: chr7:g.99266318G>A (hg19) ; chr7:g.99668695G>A (hg38)
• PubMed: PMID:25898920

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99668695G>A , CM000669.2:g.99668695G>A	GRCh38
NC_000007.13:g.99266318G>A , CM000669.1:g.99266318G>A	GRCh37
NC_000007.12:g.99104254G>A	NCBI36
NG_007938.1:g.16304C>T
NG_007938.2:g.16304C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439761.3:c.*3079C>T (CYP3A5)	ENSP00000401269.1:n.*3079C>T
ENST00000646887.1:c.*4-1630C>T (CYP3A5)	ENSP00000496704.1:n.*4-1630C>T
ENST00000222982.8:c.319-1630C>T (CYP3A5) MANE Select	ENSP00000222982.4:n.319-1630C>T
ENST00000339843.6:c.*718-1630C>T (CYP3A5)	ENSP00000343074.2:n.*718-1630C>T
ENST00000461920.5:n.911-1630C>T (CYP3A5)
ENST00000463364.5:n.629-1630C>T (CYP3A5)
ENST00000466061.5:n.659-1630C>T (CYP3A5)
ENST00000469887.5:n.767-1630C>T (CYP3A5)
ENST00000480723.5:n.376-1630C>T (CYP3A5)
ENST00000481825.5:n.919-1630C>T (CYP3A5)
NM_000777.4:c.319-1630C>T (CYP3A5)	NP_000768.1:n.319-1630C>T
NM_001291829.1:c.-21-1630C>T (CYP3A5)	NP_001278758.1:n.-21-1630C>T
NM_001291830.1:c.289-1630C>T (CYP3A5)	NP_001278759.1:n.289-1630C>T
NR_033807.2:n.968-1630C>T (CYP3A5)
XM_006715859.2:c.319-1630C>T (CYP3A5)	XP_006715922.1:n.319-1630C>T
XM_011515843.1:c.-21-1630C>T (CYP3A5)	XP_011514145.1:n.-21-1630C>T
XM_011515844.1:c.-21-1630C>T (CYP3A5)	XP_011514146.1:n.-21-1630C>T
XM_011515845.1:c.-231-1630C>T (CYP3A5)	XP_011514147.1:n.-231-1630C>T
XM_011515846.1:c.-231-1630C>T (CYP3A5)	XP_011514148.1:n.-231-1630C>T
XM_011515847.1:c.-231-1630C>T (CYP3A5)	XP_011514149.1:n.-231-1630C>T
XM_011515909.1:c.806-400G>A (ZSCAN25)	XP_011514211.1:n.806-400G>A
XR_927383.1:n.552-1630C>T (CYP3A5)
XR_927402.1:n.1466+44515G>A (ZSCAN25)
NM_000777.5:c.319-1630C>T (CYP3A5) MANE Select	NP_000768.1:n.319-1630C>T
NM_001350984.1:c.806-400G>A (ZSCAN25)	NP_001337913.1:n.806-400G>A
NM_001350985.1:c.806-400G>A (ZSCAN25)	NP_001337914.1:n.806-400G>A
XM_011515909.2:c.806-400G>A (ZSCAN25)	XP_011514211.1:n.806-400G>A
XR_927402.2:n.1465+44515G>A (ZSCAN25)
NM_001190484.3:c.*3079C>T (CYP3A5)	NP_001177413.1:n.*3079C>T
NM_001291829.2:c.-21-1630C>T (CYP3A5)	NP_001278758.1:n.-21-1630C>T
NM_001291830.2:c.289-1630C>T (CYP3A5)	NP_001278759.1:n.289-1630C>T
NM_001350984.2:c.806-400G>A (ZSCAN25)	NP_001337913.1:n.806-400G>A
NM_001350985.2:c.806-400G>A (ZSCAN25)	NP_001337914.1:n.806-400G>A
NR_033807.3:n.938-1630C>T (CYP3A5)