Canonical Allele Identifier: CA1729182153
Community Standard Title: NM_000777.5(CYP3A5):c.299C= (p.Ser100=)
Gene: CYP3A5 HGNC NCBI
ZSCAN25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99672599G= , CM000669.2:g.99672599G= GRCh38
NC_000007.13:g.99270222G= , CM000669.1:g.99270222G= GRCh37
NC_000007.12:g.99108158G= NCBI36
NG_007938.1:g.12400C=
NG_007938.2:g.12400C=

Transcript Alleles

HGVS Amino-acid Change
NM_000777.5:c.299C= (CYP3A5) MANE Select NP_000768.1:p.Ser100=
ENST00000222982.8:c.299C= (CYP3A5) MANE Select ENSP00000222982.4:p.Ser100=
NM_000777.4:c.299C= (CYP3A5) NP_000768.1:p.Ser100=
NM_001190484.2:c.299C= (CYP3A5) NP_001177413.1:p.Ser100=
NM_001190484.3:c.299C= (CYP3A5) NP_001177413.1:p.Ser100=
NM_001291829.1:c.-41C= (CYP3A5) NP_001278758.1:n.-41C=
NM_001291829.2:c.-41C= (CYP3A5) NP_001278758.1:n.-41C=
NM_001291830.1:c.269C= (CYP3A5) NP_001278759.1:p.Ser90=
NM_001291830.2:c.269C= (CYP3A5) NP_001278759.1:p.Ser90=
NR_033807.2:n.948C= (CYP3A5)
NR_033807.3:n.918C= (CYP3A5)
ENST00000339843.6:c.*698C= (CYP3A5) ENSP00000343074.2:n.*698C=
ENST00000439761.1:c.299C= (CYP3A5) ENSP00000401269.1:p.Ser100=
ENST00000439761.3:c.299C= (CYP3A5) ENSP00000401269.1:p.Ser100=
ENST00000461920.5:n.891C= (CYP3A5)
ENST00000463364.5:n.501C= (CYP3A5)
ENST00000463907.5:n.635C= (CYP3A5)
ENST00000466061.5:n.531C= (CYP3A5)
ENST00000469622.5:n.546C= (CYP3A5)
ENST00000469887.5:n.747C= (CYP3A5)
ENST00000480723.5:n.356C= (CYP3A5)
ENST00000481825.5:n.899C= (CYP3A5)
ENST00000646887.1:c.299C= (CYP3A5) ENSP00000496704.1:p.Ser100=
XM_006715859.2:c.299C= (CYP3A5) XP_006715922.1:p.Ser100=
XM_011515843.1:c.-41C= (CYP3A5) XP_011514145.1:n.-41C=
XM_011515844.1:c.-149C= (CYP3A5) XP_011514146.1:n.-149C=
XM_011515845.1:c.-251C= (CYP3A5) XP_011514147.1:n.-251C=
XM_011515846.1:c.-251C= (CYP3A5) XP_011514148.1:n.-251C=
XM_011515847.1:c.-359C= (CYP3A5) XP_011514149.1:n.-359C=
XR_927383.1:n.424C= (CYP3A5)
XR_927402.1:n.1466+48419G= (ZSCAN25)
XR_927402.2:n.1465+48419G= (ZSCAN25)