Canonical Allele Identifier: CA1981487531
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs1790329

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71436837A>T , CM000673.2:g.71436837A>T GRCh38
NC_000011.9:g.71147883A>T , CM000673.1:g.71147883A>T GRCh37
NC_000011.8:g.70825531A>T NCBI36
NG_012655.2:g.16595T>A , LRG_340:g.16595T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.963+975T>A ENSP00000435707.3:n.963+975T>A
ENST00000526780.6:c.963+975T>A ENSP00000435668.2:n.963+975T>A
ENST00000527316.6:c.789+975T>A ENSP00000435047.2:n.789+975T>A
ENST00000682708.1:c.1014+975T>A ENSP00000506866.1:n.1014+975T>A
ENST00000682880.1:c.*837T>A ENSP00000507520.1:n.*837T>A
ENST00000683287.1:c.999+975T>A ENSP00000507607.1:n.999+975T>A
ENST00000683714.1:c.971+967T>A ENSP00000508207.1:n.971+967T>A
ENST00000684396.1:n.1003+975T>A
ENST00000685320.1:c.378+975T>A ENSP00000509319.1:n.378+975T>A
ENST00000690257.1:c.867+975T>A ENSP00000510750.1:n.867+975T>A
ENST00000355527.8:c.963+975T>A MANE Select ENSP00000347717.4:n.963+975T>A
ENST00000355527.7:c.963+975T>A ENSP00000347717.3:n.963+975T>A
ENST00000407721.6:c.963+975T>A ENSP00000384739.2:n.963+975T>A
ENST00000525137.1:c.331-864T>A ENSP00000435956.1:n.331-864T>A
ENST00000533800.5:c.213+975T>A ENSP00000435011.1:n.213+975T>A
ENST00000534795.5:c.319+975T>A
NM_001163817.1:c.963+975T>A NP_001157289.1:n.963+975T>A
NM_001360.2:c.963+975T>A , LRG_340t1:c.963+975T>A NP_001351.2:n.963+975T>A
XM_011544777.1:c.964-864T>A XP_011543079.1:n.964-864T>A
XM_011544777.2:c.964-864T>A XP_011543079.1:n.964-864T>A
NM_001163817.2:c.963+975T>A NP_001157289.1:n.963+975T>A
NM_001360.3:c.963+975T>A MANE Select NP_001351.2:n.963+975T>A