Canonical Allele Identifier: CA1981486803

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435422G= , CM000673.2:g.71435422G=	GRCh38
NC_000011.9:g.71146468G= , CM000673.1:g.71146468G=	GRCh37
NC_000011.8:g.70824116G=	NCBI36
NG_012655.2:g.18010C= , LRG_340:g.18010C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1381C=	ENSP00000435707.3:p.Arg461=
ENST00000526780.6:c.1381C=	ENSP00000435668.2:p.Arg461=
ENST00000527316.6:c.1207C=	ENSP00000435047.2:p.Arg403=
ENST00000682708.1:c.1432C=	ENSP00000506866.1:p.Arg478=
ENST00000683287.1:c.1417C=	ENSP00000507607.1:p.Arg473=
ENST00000683714.1:c.*144C=	ENSP00000508207.1:n.*144C=
ENST00000684396.1:n.1421C=
ENST00000685320.1:c.796C=	ENSP00000509319.1:p.Arg266=
ENST00000690257.1:c.1285C=	ENSP00000510750.1:p.Arg429=
ENST00000355527.8:c.1381C= MANE Select	ENSP00000347717.4:p.Arg461=
ENST00000355527.7:c.1381C=	ENSP00000347717.3:p.Arg461=
ENST00000407721.6:c.1381C=	ENSP00000384739.2:p.Arg461=
ENST00000525137.1:c.882C=	ENSP00000435956.1:n.882C=
ENST00000533800.5:c.611+20C=	ENSP00000435011.1:n.611+20C=
ENST00000534795.5:c.319+2390C=
NM_001163817.1:c.1381C=	NP_001157289.1:p.Arg461=
NM_001360.2:c.1381C= , LRG_340t1:c.1381C=	NP_001351.2:p.Arg461=
XM_011544777.1:c.*144C=	XP_011543079.1:n.*144C=
XM_011544777.2:c.*144C=	XP_011543079.1:n.*144C=
NM_001163817.2:c.1381C=	NP_001157289.1:p.Arg461=
NM_001360.3:c.1381C= MANE Select	NP_001351.2:p.Arg461=