Canonical Allele Identifier: CA1981486932

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435644C= , CM000673.2:g.71435644C=	GRCh38
NC_000011.9:g.71146690C= , CM000673.1:g.71146690C=	GRCh37
NC_000011.8:g.70824338C=	NCBI36
NG_012655.2:g.17788G= , LRG_340:g.17788G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1159G=	ENSP00000435707.3:p.Gly387=
ENST00000526780.6:c.1159G=	ENSP00000435668.2:p.Gly387=
ENST00000527316.6:c.985G=	ENSP00000435047.2:p.Gly329=
ENST00000682708.1:c.1210G=	ENSP00000506866.1:p.Gly404=
ENST00000683287.1:c.1195G=	ENSP00000507607.1:p.Gly399=
ENST00000683714.1:c.1167G=	ENSP00000508207.1:p.Met389=
ENST00000684396.1:n.1199G=
ENST00000685320.1:c.574G=	ENSP00000509319.1:p.Gly192=
ENST00000690257.1:c.1063G=	ENSP00000510750.1:p.Gly355=
ENST00000355527.8:c.1159G= MANE Select	ENSP00000347717.4:p.Gly387=
ENST00000355527.7:c.1159G=	ENSP00000347717.3:p.Gly387=
ENST00000407721.6:c.1159G=	ENSP00000384739.2:p.Gly387=
ENST00000525137.1:c.660G=	ENSP00000435956.1:p.Met220=
ENST00000533800.5:c.409G=	ENSP00000435011.1:p.Gly137=
ENST00000534795.5:c.319+2168G=
NM_001163817.1:c.1159G=	NP_001157289.1:p.Gly387=
NM_001360.2:c.1159G= , LRG_340t1:c.1159G=	NP_001351.2:p.Gly387=
XM_011544777.1:c.1293G=	XP_011543079.1:p.Met431=
XM_011544777.2:c.1293G=	XP_011543079.1:p.Met431=
NM_001163817.2:c.1159G=	NP_001157289.1:p.Gly387=
NM_001360.3:c.1159G= MANE Select	NP_001351.2:p.Gly387=