Canonical Allele Identifier: CA1981487013

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435768C= , CM000673.2:g.71435768C=	GRCh38
NC_000011.9:g.71146814C= , CM000673.1:g.71146814C=	GRCh37
NC_000011.8:g.70824462C=	NCBI36
NG_012655.2:g.17664G= , LRG_340:g.17664G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1035G=	ENSP00000435707.3:p.Leu345=
ENST00000526780.6:c.1035G=	ENSP00000435668.2:p.Leu345=
ENST00000527316.6:c.861G=	ENSP00000435047.2:p.Leu287=
ENST00000682708.1:c.1086G=	ENSP00000506866.1:p.Leu362=
ENST00000683287.1:c.1071G=	ENSP00000507607.1:p.Leu357=
ENST00000683714.1:c.1043G=	ENSP00000508207.1:p.Trp348=
ENST00000684396.1:n.1075G=
ENST00000685320.1:c.450G=	ENSP00000509319.1:p.Leu150=
ENST00000690257.1:c.939G=	ENSP00000510750.1:p.Leu313=
ENST00000355527.8:c.1035G= MANE Select	ENSP00000347717.4:p.Leu345=
ENST00000355527.7:c.1035G=	ENSP00000347717.3:p.Leu345=
ENST00000407721.6:c.1035G=	ENSP00000384739.2:p.Leu345=
ENST00000525137.1:c.536G=	ENSP00000435956.1:p.Trp179=
ENST00000533800.5:c.285G=	ENSP00000435011.1:p.Leu95=
ENST00000534795.5:c.319+2044G=
NM_001163817.1:c.1035G=	NP_001157289.1:p.Leu345=
NM_001360.2:c.1035G= , LRG_340t1:c.1035G=	NP_001351.2:p.Leu345=
XM_011544777.1:c.1169G=	XP_011543079.1:p.Trp390=
XM_011544777.2:c.1169G=	XP_011543079.1:p.Trp390=
NM_001163817.2:c.1035G=	NP_001157289.1:p.Leu345=
NM_001360.3:c.1035G= MANE Select	NP_001351.2:p.Leu345=