Canonical Allele Identifier: CA1981486882

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435552G= , CM000673.2:g.71435552G=	GRCh38
NC_000011.9:g.71146598G= , CM000673.1:g.71146598G=	GRCh37
NC_000011.8:g.70824246G=	NCBI36
NG_012655.2:g.17880C= , LRG_340:g.17880C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1251C=	ENSP00000435707.3:p.Ala417=
ENST00000526780.6:c.1251C=	ENSP00000435668.2:p.Ala417=
ENST00000527316.6:c.1077C=	ENSP00000435047.2:p.Ala359=
ENST00000682708.1:c.1302C=	ENSP00000506866.1:p.Ala434=
ENST00000683287.1:c.1287C=	ENSP00000507607.1:p.Ala429=
ENST00000683714.1:c.*14C=	ENSP00000508207.1:n.*14C=
ENST00000684396.1:n.1291C=
ENST00000685320.1:c.666C=	ENSP00000509319.1:p.Ala222=
ENST00000690257.1:c.1155C=	ENSP00000510750.1:p.Ala385=
ENST00000355527.8:c.1251C= MANE Select	ENSP00000347717.4:p.Ala417=
ENST00000355527.7:c.1251C=	ENSP00000347717.3:p.Ala417=
ENST00000407721.6:c.1251C=	ENSP00000384739.2:p.Ala417=
ENST00000525137.1:c.752C=	ENSP00000435956.1:n.752C=
ENST00000533800.5:c.501C=	ENSP00000435011.1:p.Ala167=
ENST00000534795.5:c.319+2260C=
NM_001163817.1:c.1251C=	NP_001157289.1:p.Ala417=
NM_001360.2:c.1251C= , LRG_340t1:c.1251C=	NP_001351.2:p.Ala417=
XM_011544777.1:c.*14C=	XP_011543079.1:n.*14C=
XM_011544777.2:c.*14C=	XP_011543079.1:n.*14C=
NM_001163817.2:c.1251C=	NP_001157289.1:p.Ala417=
NM_001360.3:c.1251C= MANE Select	NP_001351.2:p.Ala417=