Canonical Allele Identifier: CA1981488540

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438888G= , CM000673.2:g.71438888G=	GRCh38
NC_000011.9:g.71149934G= , CM000673.1:g.71149934G=	GRCh37
NC_000011.8:g.70827582G=	NCBI36
NG_012655.2:g.14544C= , LRG_340:g.14544C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.822C=	ENSP00000435707.3:p.Asn274=
ENST00000526780.6:c.822C=	ENSP00000435668.2:p.Asn274=
ENST00000527316.6:c.648C=	ENSP00000435047.2:p.Asn216=
ENST00000682708.1:c.873C=	ENSP00000506866.1:p.Asn291=
ENST00000682880.1:c.822C=	ENSP00000507520.1:p.Asn274=
ENST00000683287.1:c.858C=	ENSP00000507607.1:p.Asn286=
ENST00000683714.1:c.822C=	ENSP00000508207.1:p.Asn274=
ENST00000684396.1:n.862C=
ENST00000685320.1:c.237C=	ENSP00000509319.1:p.Asn79=
ENST00000690257.1:c.726C=	ENSP00000510750.1:p.Asn242=
ENST00000355527.8:c.822C= MANE Select	ENSP00000347717.4:p.Asn274=
ENST00000355527.7:c.822C=	ENSP00000347717.3:p.Asn274=
ENST00000407721.6:c.822C=	ENSP00000384739.2:p.Asn274=
ENST00000525137.1:c.189C=	ENSP00000435956.1:p.Asn63=
ENST00000527316.5:c.726C=	ENSP00000435047.1:p.Asn242=
ENST00000533800.5:c.72C=	ENSP00000435011.1:p.Asn24=
ENST00000534701.1:n.317C=
ENST00000534795.5:c.178C=
NM_001163817.1:c.822C=	NP_001157289.1:p.Asn274=
NM_001360.2:c.822C= , LRG_340t1:c.822C=	NP_001351.2:p.Asn274=
XM_011544777.1:c.822C=	XP_011543079.1:p.Asn274=
XM_011544777.2:c.822C=	XP_011543079.1:p.Asn274=
NM_001163817.2:c.822C=	NP_001157289.1:p.Asn274=
NM_001360.3:c.822C= MANE Select	NP_001351.2:p.Asn274=