Canonical Allele Identifier: CA1981486979

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435719G= , CM000673.2:g.71435719G=	GRCh38
NC_000011.9:g.71146765G= , CM000673.1:g.71146765G=	GRCh37
NC_000011.8:g.70824413G=	NCBI36
NG_012655.2:g.17713C= , LRG_340:g.17713C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1084C=	ENSP00000435707.3:p.Arg362=
ENST00000526780.6:c.1084C=	ENSP00000435668.2:p.Arg362=
ENST00000527316.6:c.910C=	ENSP00000435047.2:p.Arg304=
ENST00000682708.1:c.1135C=	ENSP00000506866.1:p.Arg379=
ENST00000683287.1:c.1120C=	ENSP00000507607.1:p.Arg374=
ENST00000683714.1:c.1092C=	ENSP00000508207.1:p.Ser364=
ENST00000684396.1:n.1124C=
ENST00000685320.1:c.499C=	ENSP00000509319.1:p.Arg167=
ENST00000690257.1:c.988C=	ENSP00000510750.1:p.Arg330=
ENST00000355527.8:c.1084C= MANE Select	ENSP00000347717.4:p.Arg362=
ENST00000355527.7:c.1084C=	ENSP00000347717.3:p.Arg362=
ENST00000407721.6:c.1084C=	ENSP00000384739.2:p.Arg362=
ENST00000525137.1:c.585C=	ENSP00000435956.1:p.Ser195=
ENST00000533800.5:c.334C=	ENSP00000435011.1:p.Arg112=
ENST00000534795.5:c.319+2093C=
NM_001163817.1:c.1084C=	NP_001157289.1:p.Arg362=
NM_001360.2:c.1084C= , LRG_340t1:c.1084C=	NP_001351.2:p.Arg362=
XM_011544777.1:c.1218C=	XP_011543079.1:p.Ser406=
XM_011544777.2:c.1218C=	XP_011543079.1:p.Ser406=
NM_001163817.2:c.1084C=	NP_001157289.1:p.Arg362=
NM_001360.3:c.1084C= MANE Select	NP_001351.2:p.Arg362=