Canonical Allele Identifier: CA381700543

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435418T>C , CM000673.2:g.71435418T>C	GRCh38
NC_000011.9:g.71146464T>C , CM000673.1:g.71146464T>C	GRCh37
NC_000011.8:g.70824112T>C	NCBI36
NG_012655.2:g.18014A>G , LRG_340:g.18014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1385A>G	ENSP00000435707.3:p.Tyr462Cys
ENST00000526780.6:c.1385A>G	ENSP00000435668.2:p.Tyr462Cys
ENST00000527316.6:c.1211A>G	ENSP00000435047.2:p.Tyr404Cys
ENST00000682708.1:c.1436A>G	ENSP00000506866.1:p.Tyr479Cys
ENST00000683287.1:c.1421A>G	ENSP00000507607.1:p.Tyr474Cys
ENST00000683714.1:c.*148A>G	ENSP00000508207.1:n.*148A>G
ENST00000684396.1:n.1425A>G
ENST00000685320.1:c.800A>G	ENSP00000509319.1:p.Tyr267Cys
ENST00000690257.1:c.1289A>G	ENSP00000510750.1:p.Tyr430Cys
ENST00000355527.8:c.1385A>G MANE Select	ENSP00000347717.4:p.Tyr462Cys
ENST00000355527.7:c.1385A>G	ENSP00000347717.3:p.Tyr462Cys
ENST00000407721.6:c.1385A>G	ENSP00000384739.2:p.Tyr462Cys
ENST00000525137.1:c.886A>G	ENSP00000435956.1:n.886A>G
ENST00000533800.5:c.611+24A>G	ENSP00000435011.1:n.611+24A>G
ENST00000534795.5:c.319+2394A>G
NM_001163817.1:c.1385A>G	NP_001157289.1:p.Tyr462Cys
NM_001360.2:c.1385A>G , LRG_340t1:c.1385A>G	NP_001351.2:p.Tyr462Cys
XM_011544777.1:c.*148A>G	XP_011543079.1:n.*148A>G
XM_011544777.2:c.*148A>G	XP_011543079.1:n.*148A>G
NM_001163817.2:c.1385A>G	NP_001157289.1:p.Tyr462Cys
NM_001360.3:c.1385A>G MANE Select	NP_001351.2:p.Tyr462Cys