Canonical Allele Identifier: CA6162353
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs577213881

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435850A>C , CM000673.2:g.71435850A>C GRCh38
NC_000011.9:g.71146896A>C , CM000673.1:g.71146896A>C GRCh37
NC_000011.8:g.70824544A>C NCBI36
NG_012655.2:g.17582T>G , LRG_340:g.17582T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-11T>G ENSP00000435707.3:n.964-11T>G
ENST00000526780.6:c.964-11T>G ENSP00000435668.2:n.964-11T>G
ENST00000527316.6:c.790-11T>G ENSP00000435047.2:n.790-11T>G
ENST00000682708.1:c.1015-11T>G ENSP00000506866.1:n.1015-11T>G
ENST00000683287.1:c.1000-11T>G ENSP00000507607.1:n.1000-11T>G
ENST00000683714.1:c.972-11T>G ENSP00000508207.1:n.972-11T>G
ENST00000684396.1:n.1004-11T>G
ENST00000685320.1:c.379-11T>G ENSP00000509319.1:n.379-11T>G
ENST00000690257.1:c.868-11T>G ENSP00000510750.1:n.868-11T>G
ENST00000355527.8:c.964-11T>G MANE Select ENSP00000347717.4:n.964-11T>G
ENST00000355527.7:c.964-11T>G ENSP00000347717.3:n.964-11T>G
ENST00000407721.6:c.964-11T>G ENSP00000384739.2:n.964-11T>G
ENST00000525137.1:c.454T>G ENSP00000435956.1:p.Ser152Ala
ENST00000533800.5:c.214-11T>G ENSP00000435011.1:n.214-11T>G
ENST00000534795.5:c.319+1962T>G
NM_001163817.1:c.964-11T>G NP_001157289.1:n.964-11T>G
NM_001360.2:c.964-11T>G , LRG_340t1:c.964-11T>G NP_001351.2:n.964-11T>G
XM_011544777.1:c.1087T>G XP_011543079.1:p.Ser363Ala
XM_011544777.2:c.1087T>G XP_011543079.1:p.Ser363Ala
NM_001163817.2:c.964-11T>G NP_001157289.1:n.964-11T>G
NM_001360.3:c.964-11T>G MANE Select NP_001351.2:n.964-11T>G