Canonical Allele Identifier: CA1981487019

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435783G= , CM000673.2:g.71435783G=	GRCh38
NC_000011.9:g.71146829G= , CM000673.1:g.71146829G=	GRCh37
NC_000011.8:g.70824477G=	NCBI36
NG_012655.2:g.17649C= , LRG_340:g.17649C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1020C=	ENSP00000435707.3:p.Val340=
ENST00000526780.6:c.1020C=	ENSP00000435668.2:p.Val340=
ENST00000527316.6:c.846C=	ENSP00000435047.2:p.Val282=
ENST00000682708.1:c.1071C=	ENSP00000506866.1:p.Val357=
ENST00000683287.1:c.1056C=	ENSP00000507607.1:p.Val352=
ENST00000683714.1:c.1028C=	ENSP00000508207.1:p.Ser343=
ENST00000684396.1:n.1060C=
ENST00000685320.1:c.435C=	ENSP00000509319.1:p.Val145=
ENST00000690257.1:c.924C=	ENSP00000510750.1:p.Val308=
ENST00000355527.8:c.1020C= MANE Select	ENSP00000347717.4:p.Val340=
ENST00000355527.7:c.1020C=	ENSP00000347717.3:p.Val340=
ENST00000407721.6:c.1020C=	ENSP00000384739.2:p.Val340=
ENST00000525137.1:c.521C=	ENSP00000435956.1:p.Ser174=
ENST00000533800.5:c.270C=	ENSP00000435011.1:p.Val90=
ENST00000534795.5:c.319+2029C=
NM_001163817.1:c.1020C=	NP_001157289.1:p.Val340=
NM_001360.2:c.1020C= , LRG_340t1:c.1020C=	NP_001351.2:p.Val340=
XM_011544777.1:c.1154C=	XP_011543079.1:p.Ser385=
XM_011544777.2:c.1154C=	XP_011543079.1:p.Ser385=
NM_001163817.2:c.1020C=	NP_001157289.1:p.Val340=
NM_001360.3:c.1020C= MANE Select	NP_001351.2:p.Val340=