Canonical Allele Identifier: CA1981487545
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71436869G= , CM000673.2:g.71436869G= GRCh38
NC_000011.9:g.71147915G= , CM000673.1:g.71147915G= GRCh37
NC_000011.8:g.70825563G= NCBI36
NG_012655.2:g.16563C= , LRG_340:g.16563C=

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.963+943C= ENSP00000435707.3:n.963+943C=
ENST00000526780.6:c.963+943C= ENSP00000435668.2:n.963+943C=
ENST00000527316.6:c.789+943C= ENSP00000435047.2:n.789+943C=
ENST00000682708.1:c.1014+943C= ENSP00000506866.1:n.1014+943C=
ENST00000682880.1:c.*805C= ENSP00000507520.1:n.*805C=
ENST00000683287.1:c.999+943C= ENSP00000507607.1:n.999+943C=
ENST00000683714.1:c.971+935C= ENSP00000508207.1:n.971+935C=
ENST00000684396.1:n.1003+943C=
ENST00000685320.1:c.378+943C= ENSP00000509319.1:n.378+943C=
ENST00000690257.1:c.867+943C= ENSP00000510750.1:n.867+943C=
ENST00000355527.8:c.963+943C= MANE Select ENSP00000347717.4:n.963+943C=
ENST00000355527.7:c.963+943C= ENSP00000347717.3:n.963+943C=
ENST00000407721.6:c.963+943C= ENSP00000384739.2:n.963+943C=
ENST00000525137.1:c.331-896C= ENSP00000435956.1:n.331-896C=
ENST00000533800.5:c.213+943C= ENSP00000435011.1:n.213+943C=
ENST00000534795.5:c.319+943C=
NM_001163817.1:c.963+943C= NP_001157289.1:n.963+943C=
NM_001360.2:c.963+943C= , LRG_340t1:c.963+943C= NP_001351.2:n.963+943C=
XM_011544777.1:c.964-896C= XP_011543079.1:n.964-896C=
XM_011544777.2:c.964-896C= XP_011543079.1:n.964-896C=
NM_001163817.2:c.963+943C= NP_001157289.1:n.963+943C=
NM_001360.3:c.963+943C= MANE Select NP_001351.2:n.963+943C=