Canonical Allele Identifier: CA381700814
Gene: DHCR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435472C>T , CM000673.2:g.71435472C>T GRCh38
NC_000011.9:g.71146518C>T , CM000673.1:g.71146518C>T GRCh37
NC_000011.8:g.70824166C>T NCBI36
NG_012655.2:g.17960G>A , LRG_340:g.17960G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1331G>A ENSP00000435707.3:p.Cys444Tyr
ENST00000526780.6:c.1331G>A ENSP00000435668.2:p.Cys444Tyr
ENST00000527316.6:c.1157G>A ENSP00000435047.2:p.Cys386Tyr
ENST00000682708.1:c.1382G>A ENSP00000506866.1:p.Cys461Tyr
ENST00000683287.1:c.1367G>A ENSP00000507607.1:p.Cys456Tyr
ENST00000683714.1:c.*94G>A ENSP00000508207.1:n.*94G>A
ENST00000684396.1:n.1371G>A
ENST00000685320.1:c.746G>A ENSP00000509319.1:p.Cys249Tyr
ENST00000690257.1:c.1235G>A ENSP00000510750.1:p.Cys412Tyr
ENST00000355527.8:c.1331G>A MANE Select ENSP00000347717.4:p.Cys444Tyr
ENST00000355527.7:c.1331G>A ENSP00000347717.3:p.Cys444Tyr
ENST00000407721.6:c.1331G>A ENSP00000384739.2:p.Cys444Tyr
ENST00000525137.1:c.832G>A ENSP00000435956.1:n.832G>A
ENST00000533800.5:c.581G>A ENSP00000435011.1:p.Cys194Tyr
ENST00000534795.5:c.319+2340G>A
NM_001163817.1:c.1331G>A NP_001157289.1:p.Cys444Tyr
NM_001360.2:c.1331G>A , LRG_340t1:c.1331G>A NP_001351.2:p.Cys444Tyr
XM_011544777.1:c.*94G>A XP_011543079.1:n.*94G>A
XM_011544777.2:c.*94G>A XP_011543079.1:n.*94G>A
NM_001163817.2:c.1331G>A NP_001157289.1:p.Cys444Tyr
NM_001360.3:c.1331G>A MANE Select NP_001351.2:p.Cys444Tyr