Canonical Allele Identifier: CA381700725

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435461C>A , CM000673.2:g.71435461C>A	GRCh38
NC_000011.9:g.71146507C>A , CM000673.1:g.71146507C>A	GRCh37
NC_000011.8:g.70824155C>A	NCBI36
NG_012655.2:g.17971G>T , LRG_340:g.17971G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1342G>T MANE Select	NP_001351.2:p.Glu448Ter
ENST00000355527.8:c.1342G>T MANE Select	ENSP00000347717.4:p.Glu448Ter
NM_001163817.1:c.1342G>T	NP_001157289.1:p.Glu448Ter
NM_001163817.2:c.1342G>T	NP_001157289.1:p.Glu448Ter
NM_001360.2:c.1342G>T , LRG_340t1:c.1342G>T	NP_001351.2:p.Glu448Ter
ENST00000355527.7:c.1342G>T	ENSP00000347717.3:p.Glu448Ter
ENST00000407721.6:c.1342G>T	ENSP00000384739.2:p.Glu448Ter
ENST00000525137.1:c.843G>T	ENSP00000435956.1:n.843G>T
ENST00000525346.6:c.1342G>T	ENSP00000435707.3:p.Glu448Ter
ENST00000526780.6:c.1342G>T	ENSP00000435668.2:p.Glu448Ter
ENST00000527316.6:c.1168G>T	ENSP00000435047.2:p.Glu390Ter
ENST00000533800.5:c.592G>T	ENSP00000435011.1:p.Glu198Ter
ENST00000534795.5:c.319+2351G>T
ENST00000682708.1:c.1393G>T	ENSP00000506866.1:p.Glu465Ter
ENST00000683287.1:c.1378G>T	ENSP00000507607.1:p.Glu460Ter
ENST00000683714.1:c.*105G>T	ENSP00000508207.1:n.*105G>T
ENST00000684396.1:n.1382G>T
ENST00000685320.1:c.757G>T	ENSP00000509319.1:p.Glu253Ter
ENST00000690257.1:c.1246G>T	ENSP00000510750.1:p.Glu416Ter
XM_011544777.1:c.*105G>T	XP_011543079.1:n.*105G>T
XM_011544777.2:c.*105G>T	XP_011543079.1:n.*105G>T