Canonical Allele Identifier: CA1981486831

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435461C= , CM000673.2:g.71435461C=	GRCh38
NC_000011.9:g.71146507C= , CM000673.1:g.71146507C=	GRCh37
NC_000011.8:g.70824155C=	NCBI36
NG_012655.2:g.17971G= , LRG_340:g.17971G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1342G=	ENSP00000435707.3:p.Glu448=
ENST00000526780.6:c.1342G=	ENSP00000435668.2:p.Glu448=
ENST00000527316.6:c.1168G=	ENSP00000435047.2:p.Glu390=
ENST00000682708.1:c.1393G=	ENSP00000506866.1:p.Glu465=
ENST00000683287.1:c.1378G=	ENSP00000507607.1:p.Glu460=
ENST00000683714.1:c.*105G=	ENSP00000508207.1:n.*105G=
ENST00000684396.1:n.1382G=
ENST00000685320.1:c.757G=	ENSP00000509319.1:p.Glu253=
ENST00000690257.1:c.1246G=	ENSP00000510750.1:p.Glu416=
ENST00000355527.8:c.1342G= MANE Select	ENSP00000347717.4:p.Glu448=
ENST00000355527.7:c.1342G=	ENSP00000347717.3:p.Glu448=
ENST00000407721.6:c.1342G=	ENSP00000384739.2:p.Glu448=
ENST00000525137.1:c.843G=	ENSP00000435956.1:n.843G=
ENST00000533800.5:c.592G=	ENSP00000435011.1:p.Glu198=
ENST00000534795.5:c.319+2351G=
NM_001163817.1:c.1342G=	NP_001157289.1:p.Glu448=
NM_001360.2:c.1342G= , LRG_340t1:c.1342G=	NP_001351.2:p.Glu448=
XM_011544777.1:c.*105G=	XP_011543079.1:n.*105G=
XM_011544777.2:c.*105G=	XP_011543079.1:n.*105G=
NM_001163817.2:c.1342G=	NP_001157289.1:p.Glu448=
NM_001360.3:c.1342G= MANE Select	NP_001351.2:p.Glu448=