Canonical Allele Identifier: CA1981488017

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437847C= , CM000673.2:g.71437847C=	GRCh38
NC_000011.9:g.71148893C= , CM000673.1:g.71148893C=	GRCh37
NC_000011.8:g.70826541C=	NCBI36
NG_012655.2:g.15585G= , LRG_340:g.15585G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.928G=	ENSP00000435707.3:p.Asp310=
ENST00000526780.6:c.928G=	ENSP00000435668.2:p.Asp310=
ENST00000527316.6:c.754G=	ENSP00000435047.2:p.Asp252=
ENST00000682708.1:c.979G=	ENSP00000506866.1:p.Asp327=
ENST00000682880.1:c.928G=	ENSP00000507520.1:p.Asp310=
ENST00000683287.1:c.964G=	ENSP00000507607.1:p.Asp322=
ENST00000683714.1:c.928G=	ENSP00000508207.1:p.Asp310=
ENST00000684396.1:n.968G=
ENST00000685320.1:c.343G=	ENSP00000509319.1:p.Asp115=
ENST00000690257.1:c.832G=	ENSP00000510750.1:p.Asp278=
ENST00000355527.8:c.928G= MANE Select	ENSP00000347717.4:p.Asp310=
ENST00000355527.7:c.928G=	ENSP00000347717.3:p.Asp310=
ENST00000407721.6:c.928G=	ENSP00000384739.2:p.Asp310=
ENST00000525137.1:c.295G=	ENSP00000435956.1:p.Asp99=
ENST00000533800.5:c.178G=	ENSP00000435011.1:p.Asp60=
ENST00000534795.5:c.284G=
NM_001163817.1:c.928G=	NP_001157289.1:p.Asp310=
NM_001360.2:c.928G= , LRG_340t1:c.928G=	NP_001351.2:p.Asp310=
XM_011544777.1:c.928G=	XP_011543079.1:p.Asp310=
XM_011544777.2:c.928G=	XP_011543079.1:p.Asp310=
NM_001163817.2:c.928G=	NP_001157289.1:p.Asp310=
NM_001360.3:c.928G= MANE Select	NP_001351.2:p.Asp310=