Canonical Allele Identifier: CA6162402
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 289153
dbSNP Id: rs149974099

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437848G>T , CM000673.2:g.71437848G>T GRCh38
NC_000011.9:g.71148894G>T , CM000673.1:g.71148894G>T GRCh37
NC_000011.8:g.70826542G>T NCBI36
NG_012655.2:g.15584C>A , LRG_340:g.15584C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.927C>A ENSP00000435707.3:p.Gly309=
ENST00000526780.6:c.927C>A ENSP00000435668.2:p.Gly309=
ENST00000527316.6:c.753C>A ENSP00000435047.2:p.Gly251=
ENST00000682708.1:c.978C>A ENSP00000506866.1:p.Gly326=
ENST00000682880.1:c.927C>A ENSP00000507520.1:p.Gly309=
ENST00000683287.1:c.963C>A ENSP00000507607.1:p.Gly321=
ENST00000683714.1:c.927C>A ENSP00000508207.1:p.Gly309=
ENST00000684396.1:n.967C>A
ENST00000685320.1:c.342C>A ENSP00000509319.1:p.Gly114=
ENST00000690257.1:c.831C>A ENSP00000510750.1:p.Gly277=
ENST00000355527.8:c.927C>A MANE Select ENSP00000347717.4:p.Gly309=
ENST00000355527.7:c.927C>A ENSP00000347717.3:p.Gly309=
ENST00000407721.6:c.927C>A ENSP00000384739.2:p.Gly309=
ENST00000525137.1:c.294C>A ENSP00000435956.1:p.Gly98=
ENST00000533800.5:c.177C>A ENSP00000435011.1:p.Gly59=
ENST00000534795.5:c.283C>A
NM_001163817.1:c.927C>A NP_001157289.1:p.Gly309=
NM_001360.2:c.927C>A , LRG_340t1:c.927C>A NP_001351.2:p.Gly309=
XM_011544777.1:c.927C>A XP_011543079.1:p.Gly309=
XM_011544777.2:c.927C>A XP_011543079.1:p.Gly309=
NM_001163817.2:c.927C>A NP_001157289.1:p.Gly309=
NM_001360.3:c.927C>A MANE Select NP_001351.2:p.Gly309=