Canonical Allele Identifier: CA1981486947

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435665A= , CM000673.2:g.71435665A=	GRCh38
NC_000011.9:g.71146711A= , CM000673.1:g.71146711A=	GRCh37
NC_000011.8:g.70824359A=	NCBI36
NG_012655.2:g.17767T= , LRG_340:g.17767T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1138T=	ENSP00000435707.3:p.Cys380=
ENST00000526780.6:c.1138T=	ENSP00000435668.2:p.Cys380=
ENST00000527316.6:c.964T=	ENSP00000435047.2:p.Cys322=
ENST00000682708.1:c.1189T=	ENSP00000506866.1:p.Cys397=
ENST00000683287.1:c.1174T=	ENSP00000507607.1:p.Cys392=
ENST00000683714.1:c.1146T=	ENSP00000508207.1:p.Ser382=
ENST00000684396.1:n.1178T=
ENST00000685320.1:c.553T=	ENSP00000509319.1:p.Cys185=
ENST00000690257.1:c.1042T=	ENSP00000510750.1:p.Cys348=
ENST00000355527.8:c.1138T= MANE Select	ENSP00000347717.4:p.Cys380=
ENST00000355527.7:c.1138T=	ENSP00000347717.3:p.Cys380=
ENST00000407721.6:c.1138T=	ENSP00000384739.2:p.Cys380=
ENST00000525137.1:c.639T=	ENSP00000435956.1:p.Ser213=
ENST00000533800.5:c.388T=	ENSP00000435011.1:p.Cys130=
ENST00000534795.5:c.319+2147T=
NM_001163817.1:c.1138T=	NP_001157289.1:p.Cys380=
NM_001360.2:c.1138T= , LRG_340t1:c.1138T=	NP_001351.2:p.Cys380=
XM_011544777.1:c.1272T=	XP_011543079.1:p.Ser424=
XM_011544777.2:c.1272T=	XP_011543079.1:p.Ser424=
NM_001163817.2:c.1138T=	NP_001157289.1:p.Cys380=
NM_001360.3:c.1138T= MANE Select	NP_001351.2:p.Cys380=