Canonical Allele Identifier: CA1981491048

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444075G= , CM000673.2:g.71444075G=	GRCh38
NC_000011.9:g.71155121G= , CM000673.1:g.71155121G=	GRCh37
NC_000011.8:g.70832769G=	NCBI36
NG_012655.2:g.9357C= , LRG_340:g.9357C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.239C=	ENSP00000435707.3:p.Ala80=
ENST00000526780.6:c.239C=	ENSP00000435668.2:p.Ala80=
ENST00000527316.6:c.65C=	ENSP00000435047.2:p.Ala22=
ENST00000529990.6:c.65C=	ENSP00000435058.2:p.Ala22=
ENST00000682708.1:c.239C=	ENSP00000506866.1:p.Ala80=
ENST00000682880.1:c.239C=	ENSP00000507520.1:p.Ala80=
ENST00000683287.1:c.239C=	ENSP00000507607.1:p.Ala80=
ENST00000683714.1:c.239C=	ENSP00000508207.1:p.Ala80=
ENST00000683874.1:n.516C=
ENST00000685320.1:c.-333-14C=	ENSP00000509319.1:n.-333-14C=
ENST00000690257.1:c.143C=	ENSP00000510750.1:p.Ala48=
ENST00000355527.8:c.239C= MANE Select	ENSP00000347717.4:p.Ala80=
ENST00000355527.7:c.239C=	ENSP00000347717.3:p.Ala80=
ENST00000407721.6:c.239C=	ENSP00000384739.2:p.Ala80=
ENST00000525346.5:c.239C=	ENSP00000435707.2:p.Ala80=
ENST00000526780.5:c.239C=	ENSP00000435668.1:p.Ala80=
ENST00000527316.5:c.143C=	ENSP00000435047.1:p.Ala48=
ENST00000527452.1:c.239C=	ENSP00000436007.1:p.Ala80=
ENST00000529990.5:c.179C=	ENSP00000435058.1:p.Ala60=
ENST00000531364.5:c.239C=	ENSP00000432589.1:p.Ala80=
NM_001163817.1:c.239C=	NP_001157289.1:p.Ala80=
NM_001360.2:c.239C= , LRG_340t1:c.239C=	NP_001351.2:p.Ala80=
XM_011544777.1:c.239C=	XP_011543079.1:p.Ala80=
XM_011544777.2:c.239C=	XP_011543079.1:p.Ala80=
NM_001163817.2:c.239C=	NP_001157289.1:p.Ala80=
NM_001360.3:c.239C= MANE Select	NP_001351.2:p.Ala80=