Canonical Allele Identifier: CA1981487045

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435822G= , CM000673.2:g.71435822G=	GRCh38
NC_000011.9:g.71146868G= , CM000673.1:g.71146868G=	GRCh37
NC_000011.8:g.70824516G=	NCBI36
NG_012655.2:g.17610C= , LRG_340:g.17610C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.981C=	ENSP00000435707.3:p.Tyr327=
ENST00000526780.6:c.981C=	ENSP00000435668.2:p.Tyr327=
ENST00000527316.6:c.807C=	ENSP00000435047.2:p.Tyr269=
ENST00000682708.1:c.1032C=	ENSP00000506866.1:p.Tyr344=
ENST00000683287.1:c.1017C=	ENSP00000507607.1:p.Tyr339=
ENST00000683714.1:c.989C=	ENSP00000508207.1:p.Thr330=
ENST00000684396.1:n.1021C=
ENST00000685320.1:c.396C=	ENSP00000509319.1:p.Tyr132=
ENST00000690257.1:c.885C=	ENSP00000510750.1:p.Tyr295=
ENST00000355527.8:c.981C= MANE Select	ENSP00000347717.4:p.Tyr327=
ENST00000355527.7:c.981C=	ENSP00000347717.3:p.Tyr327=
ENST00000407721.6:c.981C=	ENSP00000384739.2:p.Tyr327=
ENST00000525137.1:c.482C=	ENSP00000435956.1:p.Thr161=
ENST00000533800.5:c.231C=	ENSP00000435011.1:p.Tyr77=
ENST00000534795.5:c.319+1990C=
NM_001163817.1:c.981C=	NP_001157289.1:p.Tyr327=
NM_001360.2:c.981C= , LRG_340t1:c.981C=	NP_001351.2:p.Tyr327=
XM_011544777.1:c.1115C=	XP_011543079.1:p.Thr372=
XM_011544777.2:c.1115C=	XP_011543079.1:p.Thr372=
NM_001163817.2:c.981C=	NP_001157289.1:p.Tyr327=
NM_001360.3:c.981C= MANE Select	NP_001351.2:p.Tyr327=