Canonical Allele Identifier: CA1981486395
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71434659C= , CM000673.2:g.71434659C= GRCh38
NC_000011.9:g.71145705C= , CM000673.1:g.71145705C= GRCh37
NC_000011.8:g.70823353C= NCBI36
NG_012655.2:g.18773G= , LRG_340:g.18773G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.*716G= ENSP00000435707.3:n.*716G=
ENST00000526780.6:c.*716G= ENSP00000435668.2:n.*716G=
ENST00000682708.1:c.*716G= ENSP00000506866.1:n.*716G=
ENST00000683287.1:c.*716G= ENSP00000507607.1:n.*716G=
ENST00000683714.1:c.*907G= ENSP00000508207.1:n.*907G=
ENST00000684396.1:n.2184G=
ENST00000685320.1:c.*716G= ENSP00000509319.1:n.*716G=
ENST00000690257.1:c.*716G= ENSP00000510750.1:n.*716G=
ENST00000355527.8:c.*716G= MANE Select ENSP00000347717.4:n.*716G=
ENST00000355527.7:c.*716G= ENSP00000347717.3:n.*716G=
ENST00000407721.6:c.*716G= ENSP00000384739.2:n.*716G=
ENST00000534795.5:c.319+3153G=
NM_001163817.1:c.*716G= NP_001157289.1:n.*716G=
NM_001360.2:c.*716G= , LRG_340t1:c.*716G= NP_001351.2:n.*716G=
XM_011544777.1:c.*907G= XP_011543079.1:n.*907G=
XM_011544777.2:c.*907G= XP_011543079.1:n.*907G=
NM_001163817.2:c.*716G= NP_001157289.1:n.*716G=
NM_001360.3:c.*716G= MANE Select NP_001351.2:n.*716G=