Canonical Allele Identifier: CA1981486877

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435543C= , CM000673.2:g.71435543C=	GRCh38
NC_000011.9:g.71146589C= , CM000673.1:g.71146589C=	GRCh37
NC_000011.8:g.70824237C=	NCBI36
NG_012655.2:g.17889G= , LRG_340:g.17889G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1260G=	ENSP00000435707.3:p.Leu420=
ENST00000526780.6:c.1260G=	ENSP00000435668.2:p.Leu420=
ENST00000527316.6:c.1086G=	ENSP00000435047.2:p.Leu362=
ENST00000682708.1:c.1311G=	ENSP00000506866.1:p.Leu437=
ENST00000683287.1:c.1296G=	ENSP00000507607.1:p.Leu432=
ENST00000683714.1:c.*23G=	ENSP00000508207.1:n.*23G=
ENST00000684396.1:n.1300G=
ENST00000685320.1:c.675G=	ENSP00000509319.1:p.Leu225=
ENST00000690257.1:c.1164G=	ENSP00000510750.1:p.Leu388=
ENST00000355527.8:c.1260G= MANE Select	ENSP00000347717.4:p.Leu420=
ENST00000355527.7:c.1260G=	ENSP00000347717.3:p.Leu420=
ENST00000407721.6:c.1260G=	ENSP00000384739.2:p.Leu420=
ENST00000525137.1:c.761G=	ENSP00000435956.1:n.761G=
ENST00000533800.5:c.510G=	ENSP00000435011.1:p.Leu170=
ENST00000534795.5:c.319+2269G=
NM_001163817.1:c.1260G=	NP_001157289.1:p.Leu420=
NM_001360.2:c.1260G= , LRG_340t1:c.1260G=	NP_001351.2:p.Leu420=
XM_011544777.1:c.*23G=	XP_011543079.1:n.*23G=
XM_011544777.2:c.*23G=	XP_011543079.1:n.*23G=
NM_001163817.2:c.1260G=	NP_001157289.1:p.Leu420=
NM_001360.3:c.1260G= MANE Select	NP_001351.2:p.Leu420=