Canonical Allele Identifier: CA381703214

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438893C>T , CM000673.2:g.71438893C>T	GRCh38
NC_000011.9:g.71149939C>T , CM000673.1:g.71149939C>T	GRCh37
NC_000011.8:g.70827587C>T	NCBI36
NG_012655.2:g.14539G>A , LRG_340:g.14539G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.817G>A MANE Select	NP_001351.2:p.Val273Ile
ENST00000355527.8:c.817G>A MANE Select	ENSP00000347717.4:p.Val273Ile
NM_001163817.1:c.817G>A	NP_001157289.1:p.Val273Ile
NM_001163817.2:c.817G>A	NP_001157289.1:p.Val273Ile
NM_001360.2:c.817G>A , LRG_340t1:c.817G>A	NP_001351.2:p.Val273Ile
ENST00000355527.7:c.817G>A	ENSP00000347717.3:p.Val273Ile
ENST00000407721.6:c.817G>A	ENSP00000384739.2:p.Val273Ile
ENST00000525137.1:c.184G>A	ENSP00000435956.1:p.Val62Ile
ENST00000525346.6:c.817G>A	ENSP00000435707.3:p.Val273Ile
ENST00000526780.6:c.817G>A	ENSP00000435668.2:p.Val273Ile
ENST00000527316.5:c.721G>A	ENSP00000435047.1:p.Val241Ile
ENST00000527316.6:c.643G>A	ENSP00000435047.2:p.Val215Ile
ENST00000533800.5:c.67G>A	ENSP00000435011.1:p.Val23Ile
ENST00000534701.1:n.312G>A
ENST00000534795.5:c.173G>A
ENST00000682708.1:c.868G>A	ENSP00000506866.1:p.Val290Ile
ENST00000682880.1:c.817G>A	ENSP00000507520.1:p.Val273Ile
ENST00000683287.1:c.853G>A	ENSP00000507607.1:p.Val285Ile
ENST00000683714.1:c.817G>A	ENSP00000508207.1:p.Val273Ile
ENST00000684396.1:n.857G>A
ENST00000685320.1:c.232G>A	ENSP00000509319.1:p.Val78Ile
ENST00000690257.1:c.721G>A	ENSP00000510750.1:p.Val241Ile
XM_011544777.1:c.817G>A	XP_011543079.1:p.Val273Ile
XM_011544777.2:c.817G>A	XP_011543079.1:p.Val273Ile