Canonical Allele Identifier: CA1981488041

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437898T= , CM000673.2:g.71437898T=	GRCh38
NC_000011.9:g.71148944T= , CM000673.1:g.71148944T=	GRCh37
NC_000011.8:g.70826592T=	NCBI36
NG_012655.2:g.15534A= , LRG_340:g.15534A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.877A=	ENSP00000435707.3:p.Lys293=
ENST00000526780.6:c.877A=	ENSP00000435668.2:p.Lys293=
ENST00000527316.6:c.703A=	ENSP00000435047.2:p.Lys235=
ENST00000682708.1:c.928A=	ENSP00000506866.1:p.Lys310=
ENST00000682880.1:c.877A=	ENSP00000507520.1:p.Lys293=
ENST00000683287.1:c.913A=	ENSP00000507607.1:p.Lys305=
ENST00000683714.1:c.877A=	ENSP00000508207.1:p.Lys293=
ENST00000684396.1:n.917A=
ENST00000685320.1:c.292A=	ENSP00000509319.1:p.Lys98=
ENST00000690257.1:c.781A=	ENSP00000510750.1:p.Lys261=
ENST00000355527.8:c.877A= MANE Select	ENSP00000347717.4:p.Lys293=
ENST00000355527.7:c.877A=	ENSP00000347717.3:p.Lys293=
ENST00000407721.6:c.877A=	ENSP00000384739.2:p.Lys293=
ENST00000525137.1:c.244A=	ENSP00000435956.1:p.Lys82=
ENST00000533800.5:c.127A=	ENSP00000435011.1:p.Lys43=
ENST00000534795.5:c.233A=
NM_001163817.1:c.877A=	NP_001157289.1:p.Lys293=
NM_001360.2:c.877A= , LRG_340t1:c.877A=	NP_001351.2:p.Lys293=
XM_011544777.1:c.877A=	XP_011543079.1:p.Lys293=
XM_011544777.2:c.877A=	XP_011543079.1:p.Lys293=
NM_001163817.2:c.877A=	NP_001157289.1:p.Lys293=
NM_001360.3:c.877A= MANE Select	NP_001351.2:p.Lys293=