Canonical Allele Identifier: CA1981487047

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435827C= , CM000673.2:g.71435827C=	GRCh38
NC_000011.9:g.71146873C= , CM000673.1:g.71146873C=	GRCh37
NC_000011.8:g.70824521C=	NCBI36
NG_012655.2:g.17605G= , LRG_340:g.17605G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.976G= MANE Select	NP_001351.2:p.Val326=
ENST00000355527.8:c.976G= MANE Select	ENSP00000347717.4:p.Val326=
NM_001163817.1:c.976G=	NP_001157289.1:p.Val326=
NM_001163817.2:c.976G=	NP_001157289.1:p.Val326=
NM_001360.2:c.976G= , LRG_340t1:c.976G=	NP_001351.2:p.Val326=
ENST00000355527.7:c.976G=	ENSP00000347717.3:p.Val326=
ENST00000407721.6:c.976G=	ENSP00000384739.2:p.Val326=
ENST00000525137.1:c.477G=	ENSP00000435956.1:p.Trp159=
ENST00000525346.6:c.976G=	ENSP00000435707.3:p.Val326=
ENST00000526780.6:c.976G=	ENSP00000435668.2:p.Val326=
ENST00000527316.6:c.802G=	ENSP00000435047.2:p.Val268=
ENST00000533800.5:c.226G=	ENSP00000435011.1:p.Val76=
ENST00000534795.5:c.319+1985G=
ENST00000682708.1:c.1027G=	ENSP00000506866.1:p.Val343=
ENST00000683287.1:c.1012G=	ENSP00000507607.1:p.Val338=
ENST00000683714.1:c.984G=	ENSP00000508207.1:p.Trp328=
ENST00000684396.1:n.1016G=
ENST00000685320.1:c.391G=	ENSP00000509319.1:p.Val131=
ENST00000690257.1:c.880G=	ENSP00000510750.1:p.Val294=
XM_011544777.1:c.1110G=	XP_011543079.1:p.Trp370=
XM_011544777.2:c.1110G=	XP_011543079.1:p.Trp370=