Canonical Allele Identifier: CA1981486927

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435635G= , CM000673.2:g.71435635G=	GRCh38
NC_000011.9:g.71146681G= , CM000673.1:g.71146681G=	GRCh37
NC_000011.8:g.70824329G=	NCBI36
NG_012655.2:g.17797C= , LRG_340:g.17797C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1168C=	ENSP00000435707.3:p.His390=
ENST00000526780.6:c.1168C=	ENSP00000435668.2:p.His390=
ENST00000527316.6:c.994C=	ENSP00000435047.2:p.His332=
ENST00000682708.1:c.1219C=	ENSP00000506866.1:p.His407=
ENST00000683287.1:c.1204C=	ENSP00000507607.1:p.His402=
ENST00000683714.1:c.1176C=	ENSP00000508207.1:p.Gly392=
ENST00000684396.1:n.1208C=
ENST00000685320.1:c.583C=	ENSP00000509319.1:p.His195=
ENST00000690257.1:c.1072C=	ENSP00000510750.1:p.His358=
ENST00000355527.8:c.1168C= MANE Select	ENSP00000347717.4:p.His390=
ENST00000355527.7:c.1168C=	ENSP00000347717.3:p.His390=
ENST00000407721.6:c.1168C=	ENSP00000384739.2:p.His390=
ENST00000525137.1:c.669C=	ENSP00000435956.1:p.Gly223=
ENST00000533800.5:c.418C=	ENSP00000435011.1:p.His140=
ENST00000534795.5:c.319+2177C=
NM_001163817.1:c.1168C=	NP_001157289.1:p.His390=
NM_001360.2:c.1168C= , LRG_340t1:c.1168C=	NP_001351.2:p.His390=
XM_011544777.1:c.1302C=	XP_011543079.1:p.Gly434=
XM_011544777.2:c.1302C=	XP_011543079.1:p.Gly434=
NM_001163817.2:c.1168C=	NP_001157289.1:p.His390=
NM_001360.3:c.1168C= MANE Select	NP_001351.2:p.His390=