Canonical Allele Identifier: CA1981486925

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435631T= , CM000673.2:g.71435631T=	GRCh38
NC_000011.9:g.71146677T= , CM000673.1:g.71146677T=	GRCh37
NC_000011.8:g.70824325T=	NCBI36
NG_012655.2:g.17801A= , LRG_340:g.17801A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1172A=	ENSP00000435707.3:p.His391=
ENST00000526780.6:c.1172A=	ENSP00000435668.2:p.His391=
ENST00000527316.6:c.998A=	ENSP00000435047.2:p.His333=
ENST00000682708.1:c.1223A=	ENSP00000506866.1:p.His408=
ENST00000683287.1:c.1208A=	ENSP00000507607.1:p.His403=
ENST00000683714.1:c.1180A=	ENSP00000508207.1:p.Thr394=
ENST00000684396.1:n.1212A=
ENST00000685320.1:c.587A=	ENSP00000509319.1:p.His196=
ENST00000690257.1:c.1076A=	ENSP00000510750.1:p.His359=
ENST00000355527.8:c.1172A= MANE Select	ENSP00000347717.4:p.His391=
ENST00000355527.7:c.1172A=	ENSP00000347717.3:p.His391=
ENST00000407721.6:c.1172A=	ENSP00000384739.2:p.His391=
ENST00000525137.1:c.673A=	ENSP00000435956.1:p.Thr225=
ENST00000533800.5:c.422A=	ENSP00000435011.1:p.His141=
ENST00000534795.5:c.319+2181A=
NM_001163817.1:c.1172A=	NP_001157289.1:p.His391=
NM_001360.2:c.1172A= , LRG_340t1:c.1172A=	NP_001351.2:p.His391=
XM_011544777.1:c.1306A=	XP_011543079.1:p.Thr436=
XM_011544777.2:c.1306A=	XP_011543079.1:p.Thr436=
NM_001163817.2:c.1172A=	NP_001157289.1:p.His391=
NM_001360.3:c.1172A= MANE Select	NP_001351.2:p.His391=