Canonical Allele Identifier: CA1981488613

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71439040C= , CM000673.2:g.71439040C=	GRCh38
NC_000011.9:g.71150086C= , CM000673.1:g.71150086C=	GRCh37
NC_000011.8:g.70827734C=	NCBI36
NG_012655.2:g.14392G= , LRG_340:g.14392G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.670G= MANE Select	NP_001351.2:p.Glu224=
ENST00000355527.8:c.670G= MANE Select	ENSP00000347717.4:p.Glu224=
NM_001163817.1:c.670G=	NP_001157289.1:p.Glu224=
NM_001163817.2:c.670G=	NP_001157289.1:p.Glu224=
NM_001360.2:c.670G= , LRG_340t1:c.670G=	NP_001351.2:p.Glu224=
ENST00000355527.7:c.670G=	ENSP00000347717.3:p.Glu224=
ENST00000407721.6:c.670G=	ENSP00000384739.2:p.Glu224=
ENST00000525137.1:c.37G=	ENSP00000435956.1:p.Glu13=
ENST00000525346.6:c.670G=	ENSP00000435707.3:p.Glu224=
ENST00000526780.6:c.670G=	ENSP00000435668.2:p.Glu224=
ENST00000527316.5:c.574G=	ENSP00000435047.1:p.Glu192=
ENST00000527316.6:c.496G=	ENSP00000435047.2:p.Glu166=
ENST00000534701.1:n.165G=
ENST00000534795.5:c.26G=
ENST00000682708.1:c.721G=	ENSP00000506866.1:p.Glu241=
ENST00000682880.1:c.670G=	ENSP00000507520.1:p.Glu224=
ENST00000683287.1:c.706G=	ENSP00000507607.1:p.Glu236=
ENST00000683714.1:c.670G=	ENSP00000508207.1:p.Glu224=
ENST00000684396.1:n.710G=
ENST00000685320.1:c.85G=	ENSP00000509319.1:p.Glu29=
ENST00000690257.1:c.574G=	ENSP00000510750.1:p.Glu192=
XM_011544777.1:c.670G=	XP_011543079.1:p.Glu224=
XM_011544777.2:c.670G=	XP_011543079.1:p.Glu224=