Canonical Allele Identifier: CA1981488052

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437917C= , CM000673.2:g.71437917C=	GRCh38
NC_000011.9:g.71148963C= , CM000673.1:g.71148963C=	GRCh37
NC_000011.8:g.70826611C=	NCBI36
NG_012655.2:g.15515G= , LRG_340:g.15515G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.858G=	ENSP00000435707.3:p.Trp286=
ENST00000526780.6:c.858G=	ENSP00000435668.2:p.Trp286=
ENST00000527316.6:c.684G=	ENSP00000435047.2:p.Trp228=
ENST00000682708.1:c.909G=	ENSP00000506866.1:p.Trp303=
ENST00000682880.1:c.858G=	ENSP00000507520.1:p.Trp286=
ENST00000683287.1:c.894G=	ENSP00000507607.1:p.Trp298=
ENST00000683714.1:c.858G=	ENSP00000508207.1:p.Trp286=
ENST00000684396.1:n.898G=
ENST00000685320.1:c.273G=	ENSP00000509319.1:p.Trp91=
ENST00000690257.1:c.762G=	ENSP00000510750.1:p.Trp254=
ENST00000355527.8:c.858G= MANE Select	ENSP00000347717.4:p.Trp286=
ENST00000355527.7:c.858G=	ENSP00000347717.3:p.Trp286=
ENST00000407721.6:c.858G=	ENSP00000384739.2:p.Trp286=
ENST00000525137.1:c.225G=	ENSP00000435956.1:p.Trp75=
ENST00000527316.5:c.762G=	ENSP00000435047.1:p.Trp254=
ENST00000533800.5:c.108G=	ENSP00000435011.1:p.Trp36=
ENST00000534795.5:c.214G=
NM_001163817.1:c.858G=	NP_001157289.1:p.Trp286=
NM_001360.2:c.858G= , LRG_340t1:c.858G=	NP_001351.2:p.Trp286=
XM_011544777.1:c.858G=	XP_011543079.1:p.Trp286=
XM_011544777.2:c.858G=	XP_011543079.1:p.Trp286=
NM_001163817.2:c.858G=	NP_001157289.1:p.Trp286=
NM_001360.3:c.858G= MANE Select	NP_001351.2:p.Trp286=