Canonical Allele Identifier: CA1981486950

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435669G= , CM000673.2:g.71435669G=	GRCh38
NC_000011.9:g.71146715G= , CM000673.1:g.71146715G=	GRCh37
NC_000011.8:g.70824363G=	NCBI36
NG_012655.2:g.17763C= , LRG_340:g.17763C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1134C=	ENSP00000435707.3:p.Ile378=
ENST00000526780.6:c.1134C=	ENSP00000435668.2:p.Ile378=
ENST00000527316.6:c.960C=	ENSP00000435047.2:p.Ile320=
ENST00000682708.1:c.1185C=	ENSP00000506866.1:p.Ile395=
ENST00000683287.1:c.1170C=	ENSP00000507607.1:p.Ile390=
ENST00000683714.1:c.1142C=	ENSP00000508207.1:p.Ser381=
ENST00000684396.1:n.1174C=
ENST00000685320.1:c.549C=	ENSP00000509319.1:p.Ile183=
ENST00000690257.1:c.1038C=	ENSP00000510750.1:p.Ile346=
ENST00000355527.8:c.1134C= MANE Select	ENSP00000347717.4:p.Ile378=
ENST00000355527.7:c.1134C=	ENSP00000347717.3:p.Ile378=
ENST00000407721.6:c.1134C=	ENSP00000384739.2:p.Ile378=
ENST00000525137.1:c.635C=	ENSP00000435956.1:p.Ser212=
ENST00000533800.5:c.384C=	ENSP00000435011.1:p.Ile128=
ENST00000534795.5:c.319+2143C=
NM_001163817.1:c.1134C=	NP_001157289.1:p.Ile378=
NM_001360.2:c.1134C= , LRG_340t1:c.1134C=	NP_001351.2:p.Ile378=
XM_011544777.1:c.1268C=	XP_011543079.1:p.Ser423=
XM_011544777.2:c.1268C=	XP_011543079.1:p.Ser423=
NM_001163817.2:c.1134C=	NP_001157289.1:p.Ile378=
NM_001360.3:c.1134C= MANE Select	NP_001351.2:p.Ile378=