Canonical Allele Identifier: CA1981486974

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435713T= , CM000673.2:g.71435713T=	GRCh38
NC_000011.9:g.71146759T= , CM000673.1:g.71146759T=	GRCh37
NC_000011.8:g.70824407T=	NCBI36
NG_012655.2:g.17719A= , LRG_340:g.17719A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1090A=	ENSP00000435707.3:p.Thr364=
ENST00000526780.6:c.1090A=	ENSP00000435668.2:p.Thr364=
ENST00000527316.6:c.916A=	ENSP00000435047.2:p.Thr306=
ENST00000682708.1:c.1141A=	ENSP00000506866.1:p.Thr381=
ENST00000683287.1:c.1126A=	ENSP00000507607.1:p.Thr376=
ENST00000683714.1:c.1098A=	ENSP00000508207.1:p.Ala366=
ENST00000684396.1:n.1130A=
ENST00000685320.1:c.505A=	ENSP00000509319.1:p.Thr169=
ENST00000690257.1:c.994A=	ENSP00000510750.1:p.Thr332=
ENST00000355527.8:c.1090A= MANE Select	ENSP00000347717.4:p.Thr364=
ENST00000355527.7:c.1090A=	ENSP00000347717.3:p.Thr364=
ENST00000407721.6:c.1090A=	ENSP00000384739.2:p.Thr364=
ENST00000525137.1:c.591A=	ENSP00000435956.1:p.Ala197=
ENST00000533800.5:c.340A=	ENSP00000435011.1:p.Thr114=
ENST00000534795.5:c.319+2099A=
NM_001163817.1:c.1090A=	NP_001157289.1:p.Thr364=
NM_001360.2:c.1090A= , LRG_340t1:c.1090A=	NP_001351.2:p.Thr364=
XM_011544777.1:c.1224A=	XP_011543079.1:p.Ala408=
XM_011544777.2:c.1224A=	XP_011543079.1:p.Ala408=
NM_001163817.2:c.1090A=	NP_001157289.1:p.Thr364=
NM_001360.3:c.1090A= MANE Select	NP_001351.2:p.Thr364=