Canonical Allele Identifier: CA381694455

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441307C>G , CM000673.2:g.71441307C>G	GRCh38
NC_000011.9:g.71152353C>G , CM000673.1:g.71152353C>G	GRCh37
NC_000011.8:g.70830001C>G	NCBI36
NG_012655.2:g.12125G>C , LRG_340:g.12125G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.546G>C MANE Select	NP_001351.2:p.Trp182Cys
ENST00000355527.8:c.546G>C MANE Select	ENSP00000347717.4:p.Trp182Cys
NM_001163817.1:c.546G>C	NP_001157289.1:p.Trp182Cys
NM_001163817.2:c.546G>C	NP_001157289.1:p.Trp182Cys
NM_001360.2:c.546G>C , LRG_340t1:c.546G>C	NP_001351.2:p.Trp182Cys
ENST00000355527.7:c.546G>C	ENSP00000347717.3:p.Trp182Cys
ENST00000407721.6:c.546G>C	ENSP00000384739.2:p.Trp182Cys
ENST00000525346.6:c.546G>C	ENSP00000435707.3:p.Trp182Cys
ENST00000526780.6:c.546G>C	ENSP00000435668.2:p.Trp182Cys
ENST00000527316.5:c.450G>C	ENSP00000435047.1:p.Trp150Cys
ENST00000527316.6:c.372G>C	ENSP00000435047.2:p.Trp124Cys
ENST00000534701.1:n.41G>C
ENST00000682708.1:c.546G>C	ENSP00000506866.1:p.Trp182Cys
ENST00000682880.1:c.546G>C	ENSP00000507520.1:p.Trp182Cys
ENST00000683287.1:c.582G>C	ENSP00000507607.1:p.Trp194Cys
ENST00000683714.1:c.546G>C	ENSP00000508207.1:p.Trp182Cys
ENST00000683874.1:n.823G>C
ENST00000685320.1:c.-40G>C	ENSP00000509319.1:n.-40G>C
ENST00000690257.1:c.450G>C	ENSP00000510750.1:p.Trp150Cys
XM_011544777.1:c.546G>C	XP_011543079.1:p.Trp182Cys
XM_011544777.2:c.546G>C	XP_011543079.1:p.Trp182Cys