Canonical Allele Identifier: CA1981487009

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435760T= , CM000673.2:g.71435760T=	GRCh38
NC_000011.9:g.71146806T= , CM000673.1:g.71146806T=	GRCh37
NC_000011.8:g.70824454T=	NCBI36
NG_012655.2:g.17672A= , LRG_340:g.17672A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1043A=	ENSP00000435707.3:p.Tyr348=
ENST00000526780.6:c.1043A=	ENSP00000435668.2:p.Tyr348=
ENST00000527316.6:c.869A=	ENSP00000435047.2:p.Tyr290=
ENST00000682708.1:c.1094A=	ENSP00000506866.1:p.Tyr365=
ENST00000683287.1:c.1079A=	ENSP00000507607.1:p.Tyr360=
ENST00000683714.1:c.1051A=	ENSP00000508207.1:p.Thr351=
ENST00000684396.1:n.1083A=
ENST00000685320.1:c.458A=	ENSP00000509319.1:p.Tyr153=
ENST00000690257.1:c.947A=	ENSP00000510750.1:p.Tyr316=
ENST00000355527.8:c.1043A= MANE Select	ENSP00000347717.4:p.Tyr348=
ENST00000355527.7:c.1043A=	ENSP00000347717.3:p.Tyr348=
ENST00000407721.6:c.1043A=	ENSP00000384739.2:p.Tyr348=
ENST00000525137.1:c.544A=	ENSP00000435956.1:p.Thr182=
ENST00000533800.5:c.293A=	ENSP00000435011.1:p.Tyr98=
ENST00000534795.5:c.319+2052A=
NM_001163817.1:c.1043A=	NP_001157289.1:p.Tyr348=
NM_001360.2:c.1043A= , LRG_340t1:c.1043A=	NP_001351.2:p.Tyr348=
XM_011544777.1:c.1177A=	XP_011543079.1:p.Thr393=
XM_011544777.2:c.1177A=	XP_011543079.1:p.Thr393=
NM_001163817.2:c.1043A=	NP_001157289.1:p.Tyr348=
NM_001360.3:c.1043A= MANE Select	NP_001351.2:p.Tyr348=