Canonical Allele Identifier: CA381695868
Gene: DHCR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71443995G>T , CM000673.2:g.71443995G>T GRCh38
NC_000011.9:g.71155041G>T , CM000673.1:g.71155041G>T GRCh37
NC_000011.8:g.70832689G>T NCBI36
NG_012655.2:g.9437C>A , LRG_340:g.9437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.319C>A ENSP00000435707.3:p.Gln107Lys
ENST00000526780.6:c.319C>A ENSP00000435668.2:p.Gln107Lys
ENST00000527316.6:c.145C>A ENSP00000435047.2:p.Gln49Lys
ENST00000682708.1:c.319C>A ENSP00000506866.1:p.Gln107Lys
ENST00000682880.1:c.319C>A ENSP00000507520.1:p.Gln107Lys
ENST00000683287.1:c.319C>A ENSP00000507607.1:p.Gln107Lys
ENST00000683714.1:c.319C>A ENSP00000508207.1:p.Gln107Lys
ENST00000683874.1:n.596C>A
ENST00000685320.1:c.-267C>A ENSP00000509319.1:n.-267C>A
ENST00000690257.1:c.223C>A ENSP00000510750.1:p.Gln75Lys
ENST00000355527.8:c.319C>A MANE Select ENSP00000347717.4:p.Gln107Lys
ENST00000355527.7:c.319C>A ENSP00000347717.3:p.Gln107Lys
ENST00000407721.6:c.319C>A ENSP00000384739.2:p.Gln107Lys
ENST00000525346.5:c.319C>A ENSP00000435707.2:p.Gln107Lys
ENST00000526780.5:c.319C>A ENSP00000435668.1:p.Gln107Lys
ENST00000527316.5:c.223C>A ENSP00000435047.1:p.Gln75Lys
NM_001163817.1:c.319C>A NP_001157289.1:p.Gln107Lys
NM_001360.2:c.319C>A , LRG_340t1:c.319C>A NP_001351.2:p.Gln107Lys
XM_011544777.1:c.319C>A XP_011543079.1:p.Gln107Lys
XM_011544777.2:c.319C>A XP_011543079.1:p.Gln107Lys
NM_001163817.2:c.319C>A NP_001157289.1:p.Gln107Lys
NM_001360.3:c.319C>A MANE Select NP_001351.2:p.Gln107Lys