Canonical Allele Identifier: CA475569887

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438993G>A , CM000673.2:g.71438993G>A	GRCh38
NC_000011.9:g.71150039G>A , CM000673.1:g.71150039G>A	GRCh37
NC_000011.8:g.70827687G>A	NCBI36
NG_012655.2:g.14439C>T , LRG_340:g.14439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.717C>T	ENSP00000435707.3:p.Phe239=
ENST00000526780.6:c.717C>T	ENSP00000435668.2:p.Phe239=
ENST00000527316.6:c.543C>T	ENSP00000435047.2:p.Phe181=
ENST00000682708.1:c.768C>T	ENSP00000506866.1:p.Phe256=
ENST00000682880.1:c.717C>T	ENSP00000507520.1:p.Phe239=
ENST00000683287.1:c.753C>T	ENSP00000507607.1:p.Phe251=
ENST00000683714.1:c.717C>T	ENSP00000508207.1:p.Phe239=
ENST00000684396.1:n.757C>T
ENST00000685320.1:c.132C>T	ENSP00000509319.1:p.Phe44=
ENST00000690257.1:c.621C>T	ENSP00000510750.1:p.Phe207=
ENST00000355527.8:c.717C>T MANE Select	ENSP00000347717.4:p.Phe239=
ENST00000355527.7:c.717C>T	ENSP00000347717.3:p.Phe239=
ENST00000407721.6:c.717C>T	ENSP00000384739.2:p.Phe239=
ENST00000525137.1:c.84C>T	ENSP00000435956.1:p.Phe28=
ENST00000527316.5:c.621C>T	ENSP00000435047.1:p.Phe207=
ENST00000534701.1:n.212C>T
ENST00000534795.5:c.73C>T
NM_001163817.1:c.717C>T	NP_001157289.1:p.Phe239=
NM_001360.2:c.717C>T , LRG_340t1:c.717C>T	NP_001351.2:p.Phe239=
XM_011544777.1:c.717C>T	XP_011543079.1:p.Phe239=
XM_011544777.2:c.717C>T	XP_011543079.1:p.Phe239=
NM_001163817.2:c.717C>T	NP_001157289.1:p.Phe239=
NM_001360.3:c.717C>T MANE Select	NP_001351.2:p.Phe239=