Canonical Allele Identifier: CA381703233

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438902T>C , CM000673.2:g.71438902T>C	GRCh38
NC_000011.9:g.71149948T>C , CM000673.1:g.71149948T>C	GRCh37
NC_000011.8:g.70827596T>C	NCBI36
NG_012655.2:g.14530A>G , LRG_340:g.14530A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.808A>G MANE Select	NP_001351.2:p.Met270Val
ENST00000355527.8:c.808A>G MANE Select	ENSP00000347717.4:p.Met270Val
NM_001163817.1:c.808A>G	NP_001157289.1:p.Met270Val
NM_001163817.2:c.808A>G	NP_001157289.1:p.Met270Val
NM_001360.2:c.808A>G , LRG_340t1:c.808A>G	NP_001351.2:p.Met270Val
ENST00000355527.7:c.808A>G	ENSP00000347717.3:p.Met270Val
ENST00000407721.6:c.808A>G	ENSP00000384739.2:p.Met270Val
ENST00000525137.1:c.175A>G	ENSP00000435956.1:p.Met59Val
ENST00000525346.6:c.808A>G	ENSP00000435707.3:p.Met270Val
ENST00000526780.6:c.808A>G	ENSP00000435668.2:p.Met270Val
ENST00000527316.5:c.712A>G	ENSP00000435047.1:p.Met238Val
ENST00000527316.6:c.634A>G	ENSP00000435047.2:p.Met212Val
ENST00000533800.5:c.58A>G	ENSP00000435011.1:p.Met20Val
ENST00000534701.1:n.303A>G
ENST00000534795.5:c.164A>G
ENST00000682708.1:c.859A>G	ENSP00000506866.1:p.Met287Val
ENST00000682880.1:c.808A>G	ENSP00000507520.1:p.Met270Val
ENST00000683287.1:c.844A>G	ENSP00000507607.1:p.Met282Val
ENST00000683714.1:c.808A>G	ENSP00000508207.1:p.Met270Val
ENST00000684396.1:n.848A>G
ENST00000685320.1:c.223A>G	ENSP00000509319.1:p.Met75Val
ENST00000690257.1:c.712A>G	ENSP00000510750.1:p.Met238Val
XM_011544777.1:c.808A>G	XP_011543079.1:p.Met270Val
XM_011544777.2:c.808A>G	XP_011543079.1:p.Met270Val