Canonical Allele Identifier: CA1981486881

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435550T= , CM000673.2:g.71435550T=	GRCh38
NC_000011.9:g.71146596T= , CM000673.1:g.71146596T=	GRCh37
NC_000011.8:g.70824244T=	NCBI36
NG_012655.2:g.17882A= , LRG_340:g.17882A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1253A=	ENSP00000435707.3:p.Tyr418=
ENST00000526780.6:c.1253A=	ENSP00000435668.2:p.Tyr418=
ENST00000527316.6:c.1079A=	ENSP00000435047.2:p.Tyr360=
ENST00000682708.1:c.1304A=	ENSP00000506866.1:p.Tyr435=
ENST00000683287.1:c.1289A=	ENSP00000507607.1:p.Tyr430=
ENST00000683714.1:c.*16A=	ENSP00000508207.1:n.*16A=
ENST00000684396.1:n.1293A=
ENST00000685320.1:c.668A=	ENSP00000509319.1:p.Tyr223=
ENST00000690257.1:c.1157A=	ENSP00000510750.1:p.Tyr386=
ENST00000355527.8:c.1253A= MANE Select	ENSP00000347717.4:p.Tyr418=
ENST00000355527.7:c.1253A=	ENSP00000347717.3:p.Tyr418=
ENST00000407721.6:c.1253A=	ENSP00000384739.2:p.Tyr418=
ENST00000525137.1:c.754A=	ENSP00000435956.1:n.754A=
ENST00000533800.5:c.503A=	ENSP00000435011.1:p.Tyr168=
ENST00000534795.5:c.319+2262A=
NM_001163817.1:c.1253A=	NP_001157289.1:p.Tyr418=
NM_001360.2:c.1253A= , LRG_340t1:c.1253A=	NP_001351.2:p.Tyr418=
XM_011544777.1:c.*16A=	XP_011543079.1:n.*16A=
XM_011544777.2:c.*16A=	XP_011543079.1:n.*16A=
NM_001163817.2:c.1253A=	NP_001157289.1:p.Tyr418=
NM_001360.3:c.1253A= MANE Select	NP_001351.2:p.Tyr418=