Canonical Allele Identifier: CA381703392

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438980C>G , CM000673.2:g.71438980C>G	GRCh38
NC_000011.9:g.71150026C>G , CM000673.1:g.71150026C>G	GRCh37
NC_000011.8:g.70827674C>G	NCBI36
NG_012655.2:g.14452G>C , LRG_340:g.14452G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.730G>C MANE Select	NP_001351.2:p.Gly244Arg
ENST00000355527.8:c.730G>C MANE Select	ENSP00000347717.4:p.Gly244Arg
NM_001163817.1:c.730G>C	NP_001157289.1:p.Gly244Arg
NM_001163817.2:c.730G>C	NP_001157289.1:p.Gly244Arg
NM_001360.2:c.730G>C , LRG_340t1:c.730G>C	NP_001351.2:p.Gly244Arg
ENST00000355527.7:c.730G>C	ENSP00000347717.3:p.Gly244Arg
ENST00000407721.6:c.730G>C	ENSP00000384739.2:p.Gly244Arg
ENST00000525137.1:c.97G>C	ENSP00000435956.1:p.Gly33Arg
ENST00000525346.6:c.730G>C	ENSP00000435707.3:p.Gly244Arg
ENST00000526780.6:c.730G>C	ENSP00000435668.2:p.Gly244Arg
ENST00000527316.5:c.634G>C	ENSP00000435047.1:p.Gly212Arg
ENST00000527316.6:c.556G>C	ENSP00000435047.2:p.Gly186Arg
ENST00000534701.1:n.225G>C
ENST00000534795.5:c.86G>C
ENST00000682708.1:c.781G>C	ENSP00000506866.1:p.Gly261Arg
ENST00000682880.1:c.730G>C	ENSP00000507520.1:p.Gly244Arg
ENST00000683287.1:c.766G>C	ENSP00000507607.1:p.Gly256Arg
ENST00000683714.1:c.730G>C	ENSP00000508207.1:p.Gly244Arg
ENST00000684396.1:n.770G>C
ENST00000685320.1:c.145G>C	ENSP00000509319.1:p.Gly49Arg
ENST00000690257.1:c.634G>C	ENSP00000510750.1:p.Gly212Arg
XM_011544777.1:c.730G>C	XP_011543079.1:p.Gly244Arg
XM_011544777.2:c.730G>C	XP_011543079.1:p.Gly244Arg