Canonical Allele Identifier: CA364706381

Gene: DDX43 CGAS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73416151T>A , CM000668.2:g.73416151T>A	GRCh38
NC_000006.11:g.74125874T>A , CM000668.1:g.74125874T>A	GRCh37
NC_000006.10:g.74182595T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370336.5:c.1872T>A (DDX43) MANE Select	ENSP00000359361.4:p.Phe624Leu
ENST00000370318.5:c.1333-2130A>T (CGAS)	ENSP00000359342.1:n.1333-2130A>T
ENST00000370336.4:c.1872T>A (DDX43)	ENSP00000359361.4:p.Phe624Leu
NM_018665.2:c.1872T>A (DDX43)	NP_061135.2:p.Phe624Leu
XM_011535926.1:c.1740T>A (DDX43)	XP_011534228.1:p.Phe580Leu
XM_011535927.1:c.1515T>A (DDX43)	XP_011534229.1:p.Phe505Leu
XM_011535928.1:c.1515T>A (DDX43)	XP_011534230.1:p.Phe505Leu
XM_011535929.1:c.1245T>A (DDX43)	XP_011534231.1:p.Phe415Leu
NM_018665.3:c.1872T>A (DDX43) MANE Select	NP_061135.2:p.Phe624Leu