Canonical Allele Identifier: CA1981486980

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435720G= , CM000673.2:g.71435720G=	GRCh38
NC_000011.9:g.71146766G= , CM000673.1:g.71146766G=	GRCh37
NC_000011.8:g.70824414G=	NCBI36
NG_012655.2:g.17712C= , LRG_340:g.17712C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1083C=	ENSP00000435707.3:p.Phe361=
ENST00000526780.6:c.1083C=	ENSP00000435668.2:p.Phe361=
ENST00000527316.6:c.909C=	ENSP00000435047.2:p.Phe303=
ENST00000682708.1:c.1134C=	ENSP00000506866.1:p.Phe378=
ENST00000683287.1:c.1119C=	ENSP00000507607.1:p.Phe373=
ENST00000683714.1:c.1091C=	ENSP00000508207.1:p.Ser364=
ENST00000684396.1:n.1123C=
ENST00000685320.1:c.498C=	ENSP00000509319.1:p.Phe166=
ENST00000690257.1:c.987C=	ENSP00000510750.1:p.Phe329=
ENST00000355527.8:c.1083C= MANE Select	ENSP00000347717.4:p.Phe361=
ENST00000355527.7:c.1083C=	ENSP00000347717.3:p.Phe361=
ENST00000407721.6:c.1083C=	ENSP00000384739.2:p.Phe361=
ENST00000525137.1:c.584C=	ENSP00000435956.1:p.Ser195=
ENST00000533800.5:c.333C=	ENSP00000435011.1:p.Phe111=
ENST00000534795.5:c.319+2092C=
NM_001163817.1:c.1083C=	NP_001157289.1:p.Phe361=
NM_001360.2:c.1083C= , LRG_340t1:c.1083C=	NP_001351.2:p.Phe361=
XM_011544777.1:c.1217C=	XP_011543079.1:p.Ser406=
XM_011544777.2:c.1217C=	XP_011543079.1:p.Ser406=
NM_001163817.2:c.1083C=	NP_001157289.1:p.Phe361=
NM_001360.3:c.1083C= MANE Select	NP_001351.2:p.Phe361=