Canonical Allele Identifier: CA1981491019

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444018A= , CM000673.2:g.71444018A=	GRCh38
NC_000011.9:g.71155064A= , CM000673.1:g.71155064A=	GRCh37
NC_000011.8:g.70832712A=	NCBI36
NG_012655.2:g.9414T= , LRG_340:g.9414T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.296T= MANE Select	NP_001351.2:p.Leu99=
ENST00000355527.8:c.296T= MANE Select	ENSP00000347717.4:p.Leu99=
NM_001163817.1:c.296T=	NP_001157289.1:p.Leu99=
NM_001163817.2:c.296T=	NP_001157289.1:p.Leu99=
NM_001360.2:c.296T= , LRG_340t1:c.296T=	NP_001351.2:p.Leu99=
ENST00000355527.7:c.296T=	ENSP00000347717.3:p.Leu99=
ENST00000407721.6:c.296T=	ENSP00000384739.2:p.Leu99=
ENST00000525346.5:c.296T=	ENSP00000435707.2:p.Leu99=
ENST00000525346.6:c.296T=	ENSP00000435707.3:p.Leu99=
ENST00000526780.5:c.296T=	ENSP00000435668.1:p.Leu99=
ENST00000526780.6:c.296T=	ENSP00000435668.2:p.Leu99=
ENST00000527316.5:c.200T=	ENSP00000435047.1:p.Leu67=
ENST00000527316.6:c.122T=	ENSP00000435047.2:p.Leu41=
ENST00000531364.5:c.296T=	ENSP00000432589.1:p.Leu99=
ENST00000682708.1:c.296T=	ENSP00000506866.1:p.Leu99=
ENST00000682880.1:c.296T=	ENSP00000507520.1:p.Leu99=
ENST00000683287.1:c.296T=	ENSP00000507607.1:p.Leu99=
ENST00000683714.1:c.296T=	ENSP00000508207.1:p.Leu99=
ENST00000683874.1:n.573T=
ENST00000685320.1:c.-290T=	ENSP00000509319.1:n.-290T=
ENST00000690257.1:c.200T=	ENSP00000510750.1:p.Leu67=
XM_011544777.1:c.296T=	XP_011543079.1:p.Leu99=
XM_011544777.2:c.296T=	XP_011543079.1:p.Leu99=