Canonical Allele Identifier: CA1981486819

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435449C= , CM000673.2:g.71435449C=	GRCh38
NC_000011.9:g.71146495C= , CM000673.1:g.71146495C=	GRCh37
NC_000011.8:g.70824143C=	NCBI36
NG_012655.2:g.17983G= , LRG_340:g.17983G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1354G=	ENSP00000435707.3:p.Ala452=
ENST00000526780.6:c.1354G=	ENSP00000435668.2:p.Ala452=
ENST00000527316.6:c.1180G=	ENSP00000435047.2:p.Ala394=
ENST00000682708.1:c.1405G=	ENSP00000506866.1:p.Ala469=
ENST00000683287.1:c.1390G=	ENSP00000507607.1:p.Ala464=
ENST00000683714.1:c.*117G=	ENSP00000508207.1:n.*117G=
ENST00000684396.1:n.1394G=
ENST00000685320.1:c.769G=	ENSP00000509319.1:p.Ala257=
ENST00000690257.1:c.1258G=	ENSP00000510750.1:p.Ala420=
ENST00000355527.8:c.1354G= MANE Select	ENSP00000347717.4:p.Ala452=
ENST00000355527.7:c.1354G=	ENSP00000347717.3:p.Ala452=
ENST00000407721.6:c.1354G=	ENSP00000384739.2:p.Ala452=
ENST00000525137.1:c.855G=	ENSP00000435956.1:n.855G=
ENST00000533800.5:c.604G=	ENSP00000435011.1:p.Ala202=
ENST00000534795.5:c.319+2363G=
NM_001163817.1:c.1354G=	NP_001157289.1:p.Ala452=
NM_001360.2:c.1354G= , LRG_340t1:c.1354G=	NP_001351.2:p.Ala452=
XM_011544777.1:c.*117G=	XP_011543079.1:n.*117G=
XM_011544777.2:c.*117G=	XP_011543079.1:n.*117G=
NM_001163817.2:c.1354G=	NP_001157289.1:p.Ala452=
NM_001360.3:c.1354G= MANE Select	NP_001351.2:p.Ala452=