Canonical Allele Identifier: CA6162490

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71439027C>T , CM000673.2:g.71439027C>T	GRCh38
NC_000011.9:g.71150073C>T , CM000673.1:g.71150073C>T	GRCh37
NC_000011.8:g.70827721C>T	NCBI36
NG_012655.2:g.14405G>A , LRG_340:g.14405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.683G>A	ENSP00000435707.3:p.Arg228Gln
ENST00000526780.6:c.683G>A	ENSP00000435668.2:p.Arg228Gln
ENST00000527316.6:c.509G>A	ENSP00000435047.2:p.Arg170Gln
ENST00000682708.1:c.734G>A	ENSP00000506866.1:p.Arg245Gln
ENST00000682880.1:c.683G>A	ENSP00000507520.1:p.Arg228Gln
ENST00000683287.1:c.719G>A	ENSP00000507607.1:p.Arg240Gln
ENST00000683714.1:c.683G>A	ENSP00000508207.1:p.Arg228Gln
ENST00000684396.1:n.723G>A
ENST00000685320.1:c.98G>A	ENSP00000509319.1:p.Arg33Gln
ENST00000690257.1:c.587G>A	ENSP00000510750.1:p.Arg196Gln
ENST00000355527.8:c.683G>A MANE Select	ENSP00000347717.4:p.Arg228Gln
ENST00000355527.7:c.683G>A	ENSP00000347717.3:p.Arg228Gln
ENST00000407721.6:c.683G>A	ENSP00000384739.2:p.Arg228Gln
ENST00000525137.1:c.50G>A	ENSP00000435956.1:p.Arg17Gln
ENST00000527316.5:c.587G>A	ENSP00000435047.1:p.Arg196Gln
ENST00000534701.1:n.178G>A
ENST00000534795.5:c.39G>A
NM_001163817.1:c.683G>A	NP_001157289.1:p.Arg228Gln
NM_001360.2:c.683G>A , LRG_340t1:c.683G>A	NP_001351.2:p.Arg228Gln
XM_011544777.1:c.683G>A	XP_011543079.1:p.Arg228Gln
XM_011544777.2:c.683G>A	XP_011543079.1:p.Arg228Gln
NM_001163817.2:c.683G>A	NP_001157289.1:p.Arg228Gln
NM_001360.3:c.683G>A MANE Select	NP_001351.2:p.Arg228Gln