Canonical Allele Identifier: CA1981487050

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435833A= , CM000673.2:g.71435833A=	GRCh38
NC_000011.9:g.71146879A= , CM000673.1:g.71146879A=	GRCh37
NC_000011.8:g.70824527A=	NCBI36
NG_012655.2:g.17599T= , LRG_340:g.17599T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.970T=	ENSP00000435707.3:p.Tyr324=
ENST00000526780.6:c.970T=	ENSP00000435668.2:p.Tyr324=
ENST00000527316.6:c.796T=	ENSP00000435047.2:p.Tyr266=
ENST00000682708.1:c.1021T=	ENSP00000506866.1:p.Tyr341=
ENST00000683287.1:c.1006T=	ENSP00000507607.1:p.Tyr336=
ENST00000683714.1:c.978T=	ENSP00000508207.1:p.Cys326=
ENST00000684396.1:n.1010T=
ENST00000685320.1:c.385T=	ENSP00000509319.1:p.Tyr129=
ENST00000690257.1:c.874T=	ENSP00000510750.1:p.Tyr292=
ENST00000355527.8:c.970T= MANE Select	ENSP00000347717.4:p.Tyr324=
ENST00000355527.7:c.970T=	ENSP00000347717.3:p.Tyr324=
ENST00000407721.6:c.970T=	ENSP00000384739.2:p.Tyr324=
ENST00000525137.1:c.471T=	ENSP00000435956.1:p.Cys157=
ENST00000533800.5:c.220T=	ENSP00000435011.1:p.Tyr74=
ENST00000534795.5:c.319+1979T=
NM_001163817.1:c.970T=	NP_001157289.1:p.Tyr324=
NM_001360.2:c.970T= , LRG_340t1:c.970T=	NP_001351.2:p.Tyr324=
XM_011544777.1:c.1104T=	XP_011543079.1:p.Cys368=
XM_011544777.2:c.1104T=	XP_011543079.1:p.Cys368=
NM_001163817.2:c.970T=	NP_001157289.1:p.Tyr324=
NM_001360.3:c.970T= MANE Select	NP_001351.2:p.Tyr324=