Canonical Allele Identifier: CA1981486859

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435512A= , CM000673.2:g.71435512A=	GRCh38
NC_000011.9:g.71146558A= , CM000673.1:g.71146558A=	GRCh37
NC_000011.8:g.70824206A=	NCBI36
NG_012655.2:g.17920T= , LRG_340:g.17920T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1291T=	ENSP00000435707.3:p.Phe431=
ENST00000526780.6:c.1291T=	ENSP00000435668.2:p.Phe431=
ENST00000527316.6:c.1117T=	ENSP00000435047.2:p.Phe373=
ENST00000682708.1:c.1342T=	ENSP00000506866.1:p.Phe448=
ENST00000683287.1:c.1327T=	ENSP00000507607.1:p.Phe443=
ENST00000683714.1:c.*54T=	ENSP00000508207.1:n.*54T=
ENST00000684396.1:n.1331T=
ENST00000685320.1:c.706T=	ENSP00000509319.1:p.Phe236=
ENST00000690257.1:c.1195T=	ENSP00000510750.1:p.Phe399=
ENST00000355527.8:c.1291T= MANE Select	ENSP00000347717.4:p.Phe431=
ENST00000355527.7:c.1291T=	ENSP00000347717.3:p.Phe431=
ENST00000407721.6:c.1291T=	ENSP00000384739.2:p.Phe431=
ENST00000525137.1:c.792T=	ENSP00000435956.1:n.792T=
ENST00000533800.5:c.541T=	ENSP00000435011.1:p.Phe181=
ENST00000534795.5:c.319+2300T=
NM_001163817.1:c.1291T=	NP_001157289.1:p.Phe431=
NM_001360.2:c.1291T= , LRG_340t1:c.1291T=	NP_001351.2:p.Phe431=
XM_011544777.1:c.*54T=	XP_011543079.1:n.*54T=
XM_011544777.2:c.*54T=	XP_011543079.1:n.*54T=
NM_001163817.2:c.1291T=	NP_001157289.1:p.Phe431=
NM_001360.3:c.1291T= MANE Select	NP_001351.2:p.Phe431=