Canonical Allele Identifier: CA1981488533

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438880T= , CM000673.2:g.71438880T=	GRCh38
NC_000011.9:g.71149926T= , CM000673.1:g.71149926T=	GRCh37
NC_000011.8:g.70827574T=	NCBI36
NG_012655.2:g.14552A= , LRG_340:g.14552A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.830A=	ENSP00000435707.3:p.Gln277=
ENST00000526780.6:c.830A=	ENSP00000435668.2:p.Gln277=
ENST00000527316.6:c.656A=	ENSP00000435047.2:p.Gln219=
ENST00000682708.1:c.881A=	ENSP00000506866.1:p.Gln294=
ENST00000682880.1:c.830A=	ENSP00000507520.1:p.Gln277=
ENST00000683287.1:c.866A=	ENSP00000507607.1:p.Gln289=
ENST00000683714.1:c.830A=	ENSP00000508207.1:p.Gln277=
ENST00000684396.1:n.870A=
ENST00000685320.1:c.245A=	ENSP00000509319.1:p.Gln82=
ENST00000690257.1:c.734A=	ENSP00000510750.1:p.Gln245=
ENST00000355527.8:c.830A= MANE Select	ENSP00000347717.4:p.Gln277=
ENST00000355527.7:c.830A=	ENSP00000347717.3:p.Gln277=
ENST00000407721.6:c.830A=	ENSP00000384739.2:p.Gln277=
ENST00000525137.1:c.197A=	ENSP00000435956.1:p.Gln66=
ENST00000527316.5:c.734A=	ENSP00000435047.1:p.Gln245=
ENST00000533800.5:c.80A=	ENSP00000435011.1:p.Gln27=
ENST00000534701.1:n.325A=
ENST00000534795.5:c.186A=
NM_001163817.1:c.830A=	NP_001157289.1:p.Gln277=
NM_001360.2:c.830A= , LRG_340t1:c.830A=	NP_001351.2:p.Gln277=
XM_011544777.1:c.830A=	XP_011543079.1:p.Gln277=
XM_011544777.2:c.830A=	XP_011543079.1:p.Gln277=
NM_001163817.2:c.830A=	NP_001157289.1:p.Gln277=
NM_001360.3:c.830A= MANE Select	NP_001351.2:p.Gln277=