Canonical Allele Identifier: CA368365640

Gene: CYP3A5 ZSCAN25

Linked Data

• dbSNP Id: rs979438885
• gnomAD v2: 7-99262875-G-A
• gnomAD v3: 7-99665252-G-A
• gnomAD v4: 7-99665252-G-A
• MyVariant Identifiers: chr7:g.99262875G>A (hg19) ; chr7:g.99665252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99665252G>A , CM000669.2:g.99665252G>A	GRCh38
NC_000007.13:g.99262875G>A , CM000669.1:g.99262875G>A	GRCh37
NC_000007.12:g.99100811G>A	NCBI36
NG_007938.1:g.19747C>T
NG_007938.2:g.19747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646887.1:c.*269C>T (CYP3A5)	ENSP00000496704.1:n.*269C>T
ENST00000222982.8:c.584C>T (CYP3A5) MANE Select	ENSP00000222982.4:p.Ser195Phe
ENST00000339843.6:c.*983C>T (CYP3A5)	ENSP00000343074.2:n.*983C>T
ENST00000461920.5:n.1176C>T (CYP3A5)
ENST00000463364.5:n.903C>T (CYP3A5)
ENST00000466061.5:n.924C>T (CYP3A5)
ENST00000469887.5:n.1032C>T (CYP3A5)
ENST00000481825.5:n.1184C>T (CYP3A5)
NM_000777.4:c.584C>T (CYP3A5)	NP_000768.1:p.Ser195Phe
NM_001291829.1:c.245C>T (CYP3A5)	NP_001278758.1:p.Ser82Phe
NM_001291830.1:c.554C>T (CYP3A5)	NP_001278759.1:p.Ser185Phe
NR_033807.2:n.1233C>T (CYP3A5)
XM_006715859.2:c.584C>T (CYP3A5)	XP_006715922.1:p.Ser195Phe
XM_011515843.1:c.245C>T (CYP3A5)	XP_011514145.1:p.Ser82Phe
XM_011515844.1:c.245C>T (CYP3A5)	XP_011514146.1:p.Ser82Phe
XM_011515845.1:c.44C>T (CYP3A5)	XP_011514147.1:p.Ser15Phe
XM_011515846.1:c.44C>T (CYP3A5)	XP_011514148.1:p.Ser15Phe
XM_011515847.1:c.44C>T (CYP3A5)	XP_011514149.1:p.Ser15Phe
XM_011515909.1:c.806-3843G>A (ZSCAN25)	XP_011514211.1:n.806-3843G>A
XR_927402.1:n.1466+41072G>A (ZSCAN25)
NM_000777.5:c.584C>T (CYP3A5) MANE Select	NP_000768.1:p.Ser195Phe
NM_001350984.1:c.806-3843G>A (ZSCAN25)	NP_001337913.1:n.806-3843G>A
NM_001350985.1:c.806-3843G>A (ZSCAN25)	NP_001337914.1:n.806-3843G>A
XM_011515909.2:c.806-3843G>A (ZSCAN25)	XP_011514211.1:n.806-3843G>A
XR_927402.2:n.1465+41072G>A (ZSCAN25)
NM_001291829.2:c.245C>T (CYP3A5)	NP_001278758.1:p.Ser82Phe
NM_001291830.2:c.554C>T (CYP3A5)	NP_001278759.1:p.Ser185Phe
NM_001350984.2:c.806-3843G>A (ZSCAN25)	NP_001337913.1:n.806-3843G>A
NM_001350985.2:c.806-3843G>A (ZSCAN25)	NP_001337914.1:n.806-3843G>A
NR_033807.3:n.1203C>T (CYP3A5)