Canonical Allele Identifier: CA1981487046

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435826A= , CM000673.2:g.71435826A=	GRCh38
NC_000011.9:g.71146872A= , CM000673.1:g.71146872A=	GRCh37
NC_000011.8:g.70824520A=	NCBI36
NG_012655.2:g.17606T= , LRG_340:g.17606T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.977T=	ENSP00000435707.3:p.Val326=
ENST00000526780.6:c.977T=	ENSP00000435668.2:p.Val326=
ENST00000527316.6:c.803T=	ENSP00000435047.2:p.Val268=
ENST00000682708.1:c.1028T=	ENSP00000506866.1:p.Val343=
ENST00000683287.1:c.1013T=	ENSP00000507607.1:p.Val338=
ENST00000683714.1:c.985T=	ENSP00000508207.1:p.Cys329=
ENST00000684396.1:n.1017T=
ENST00000685320.1:c.392T=	ENSP00000509319.1:p.Val131=
ENST00000690257.1:c.881T=	ENSP00000510750.1:p.Val294=
ENST00000355527.8:c.977T= MANE Select	ENSP00000347717.4:p.Val326=
ENST00000355527.7:c.977T=	ENSP00000347717.3:p.Val326=
ENST00000407721.6:c.977T=	ENSP00000384739.2:p.Val326=
ENST00000525137.1:c.478T=	ENSP00000435956.1:p.Cys160=
ENST00000533800.5:c.227T=	ENSP00000435011.1:p.Val76=
ENST00000534795.5:c.319+1986T=
NM_001163817.1:c.977T=	NP_001157289.1:p.Val326=
NM_001360.2:c.977T= , LRG_340t1:c.977T=	NP_001351.2:p.Val326=
XM_011544777.1:c.1111T=	XP_011543079.1:p.Cys371=
XM_011544777.2:c.1111T=	XP_011543079.1:p.Cys371=
NM_001163817.2:c.977T=	NP_001157289.1:p.Val326=
NM_001360.3:c.977T= MANE Select	NP_001351.2:p.Val326=