Canonical Allele Identifier: CA1981488489
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71438810C= , CM000673.2:g.71438810C= GRCh38
NC_000011.9:g.71149856C= , CM000673.1:g.71149856C= GRCh37
NC_000011.8:g.70827504C= NCBI36
NG_012655.2:g.14622G= , LRG_340:g.14622G=

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.831+69G= ENSP00000435707.3:n.831+69G=
ENST00000526780.6:c.831+69G= ENSP00000435668.2:n.831+69G=
ENST00000527316.6:c.657+69G= ENSP00000435047.2:n.657+69G=
ENST00000682708.1:c.882+69G= ENSP00000506866.1:n.882+69G=
ENST00000682880.1:c.831+69G= ENSP00000507520.1:n.831+69G=
ENST00000683287.1:c.867+69G= ENSP00000507607.1:n.867+69G=
ENST00000683714.1:c.831+69G= ENSP00000508207.1:n.831+69G=
ENST00000684396.1:n.871+69G=
ENST00000685320.1:c.246+69G= ENSP00000509319.1:n.246+69G=
ENST00000690257.1:c.735+69G= ENSP00000510750.1:n.735+69G=
ENST00000355527.8:c.831+69G= MANE Select ENSP00000347717.4:n.831+69G=
ENST00000355527.7:c.831+69G= ENSP00000347717.3:n.831+69G=
ENST00000407721.6:c.831+69G= ENSP00000384739.2:n.831+69G=
ENST00000525137.1:c.198+69G= ENSP00000435956.1:n.198+69G=
ENST00000527316.5:c.735+69G= ENSP00000435047.1:n.735+69G=
ENST00000533800.5:c.81+69G= ENSP00000435011.1:n.81+69G=
ENST00000534701.1:n.395G=
ENST00000534795.5:c.187+69G=
NM_001163817.1:c.831+69G= NP_001157289.1:n.831+69G=
NM_001360.2:c.831+69G= , LRG_340t1:c.831+69G= NP_001351.2:n.831+69G=
XM_011544777.1:c.831+69G= XP_011543079.1:n.831+69G=
XM_011544777.2:c.831+69G= XP_011543079.1:n.831+69G=
NM_001163817.2:c.831+69G= NP_001157289.1:n.831+69G=
NM_001360.3:c.831+69G= MANE Select NP_001351.2:n.831+69G=