Canonical Allele Identifier: CA1981488537

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438884G= , CM000673.2:g.71438884G=	GRCh38
NC_000011.9:g.71149930G= , CM000673.1:g.71149930G=	GRCh37
NC_000011.8:g.70827578G=	NCBI36
NG_012655.2:g.14548C= , LRG_340:g.14548C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.826C=	ENSP00000435707.3:p.Leu276=
ENST00000526780.6:c.826C=	ENSP00000435668.2:p.Leu276=
ENST00000527316.6:c.652C=	ENSP00000435047.2:p.Leu218=
ENST00000682708.1:c.877C=	ENSP00000506866.1:p.Leu293=
ENST00000682880.1:c.826C=	ENSP00000507520.1:p.Leu276=
ENST00000683287.1:c.862C=	ENSP00000507607.1:p.Leu288=
ENST00000683714.1:c.826C=	ENSP00000508207.1:p.Leu276=
ENST00000684396.1:n.866C=
ENST00000685320.1:c.241C=	ENSP00000509319.1:p.Leu81=
ENST00000690257.1:c.730C=	ENSP00000510750.1:p.Leu244=
ENST00000355527.8:c.826C= MANE Select	ENSP00000347717.4:p.Leu276=
ENST00000355527.7:c.826C=	ENSP00000347717.3:p.Leu276=
ENST00000407721.6:c.826C=	ENSP00000384739.2:p.Leu276=
ENST00000525137.1:c.193C=	ENSP00000435956.1:p.Leu65=
ENST00000527316.5:c.730C=	ENSP00000435047.1:p.Leu244=
ENST00000533800.5:c.76C=	ENSP00000435011.1:p.Leu26=
ENST00000534701.1:n.321C=
ENST00000534795.5:c.182C=
NM_001163817.1:c.826C=	NP_001157289.1:p.Leu276=
NM_001360.2:c.826C= , LRG_340t1:c.826C=	NP_001351.2:p.Leu276=
XM_011544777.1:c.826C=	XP_011543079.1:p.Leu276=
XM_011544777.2:c.826C=	XP_011543079.1:p.Leu276=
NM_001163817.2:c.826C=	NP_001157289.1:p.Leu276=
NM_001360.3:c.826C= MANE Select	NP_001351.2:p.Leu276=