Canonical Allele Identifier: CA1981487017

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435780C= , CM000673.2:g.71435780C=	GRCh38
NC_000011.9:g.71146826C= , CM000673.1:g.71146826C=	GRCh37
NC_000011.8:g.70824474C=	NCBI36
NG_012655.2:g.17652G= , LRG_340:g.17652G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1023G=	ENSP00000435707.3:p.Leu341=
ENST00000526780.6:c.1023G=	ENSP00000435668.2:p.Leu341=
ENST00000527316.6:c.849G=	ENSP00000435047.2:p.Leu283=
ENST00000682708.1:c.1074G=	ENSP00000506866.1:p.Leu358=
ENST00000683287.1:c.1059G=	ENSP00000507607.1:p.Leu353=
ENST00000683714.1:c.1031G=	ENSP00000508207.1:p.Cys344=
ENST00000684396.1:n.1063G=
ENST00000685320.1:c.438G=	ENSP00000509319.1:p.Leu146=
ENST00000690257.1:c.927G=	ENSP00000510750.1:p.Leu309=
ENST00000355527.8:c.1023G= MANE Select	ENSP00000347717.4:p.Leu341=
ENST00000355527.7:c.1023G=	ENSP00000347717.3:p.Leu341=
ENST00000407721.6:c.1023G=	ENSP00000384739.2:p.Leu341=
ENST00000525137.1:c.524G=	ENSP00000435956.1:p.Cys175=
ENST00000533800.5:c.273G=	ENSP00000435011.1:p.Leu91=
ENST00000534795.5:c.319+2032G=
NM_001163817.1:c.1023G=	NP_001157289.1:p.Leu341=
NM_001360.2:c.1023G= , LRG_340t1:c.1023G=	NP_001351.2:p.Leu341=
XM_011544777.1:c.1157G=	XP_011543079.1:p.Cys386=
XM_011544777.2:c.1157G=	XP_011543079.1:p.Cys386=
NM_001163817.2:c.1023G=	NP_001157289.1:p.Leu341=
NM_001360.3:c.1023G= MANE Select	NP_001351.2:p.Leu341=