Canonical Allele Identifier: CA224324098
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs894897580

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435553G>A , CM000673.2:g.71435553G>A GRCh38
NC_000011.9:g.71146599G>A , CM000673.1:g.71146599G>A GRCh37
NC_000011.8:g.70824247G>A NCBI36
NG_012655.2:g.17879C>T , LRG_340:g.17879C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1250C>T ENSP00000435707.3:p.Ala417Val
ENST00000526780.6:c.1250C>T ENSP00000435668.2:p.Ala417Val
ENST00000527316.6:c.1076C>T ENSP00000435047.2:p.Ala359Val
ENST00000682708.1:c.1301C>T ENSP00000506866.1:p.Ala434Val
ENST00000683287.1:c.1286C>T ENSP00000507607.1:p.Ala429Val
ENST00000683714.1:c.*13C>T ENSP00000508207.1:n.*13C>T
ENST00000684396.1:n.1290C>T
ENST00000685320.1:c.665C>T ENSP00000509319.1:p.Ala222Val
ENST00000690257.1:c.1154C>T ENSP00000510750.1:p.Ala385Val
ENST00000355527.8:c.1250C>T MANE Select ENSP00000347717.4:p.Ala417Val
ENST00000355527.7:c.1250C>T ENSP00000347717.3:p.Ala417Val
ENST00000407721.6:c.1250C>T ENSP00000384739.2:p.Ala417Val
ENST00000525137.1:c.751C>T ENSP00000435956.1:n.751C>T
ENST00000533800.5:c.500C>T ENSP00000435011.1:p.Ala167Val
ENST00000534795.5:c.319+2259C>T
NM_001163817.1:c.1250C>T NP_001157289.1:p.Ala417Val
NM_001360.2:c.1250C>T , LRG_340t1:c.1250C>T NP_001351.2:p.Ala417Val
XM_011544777.1:c.*13C>T XP_011543079.1:n.*13C>T
XM_011544777.2:c.*13C>T XP_011543079.1:n.*13C>T
NM_001163817.2:c.1250C>T NP_001157289.1:p.Ala417Val
NM_001360.3:c.1250C>T MANE Select NP_001351.2:p.Ala417Val