Canonical Allele Identifier: CA381702956

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437849C>T , CM000673.2:g.71437849C>T	GRCh38
NC_000011.9:g.71148895C>T , CM000673.1:g.71148895C>T	GRCh37
NC_000011.8:g.70826543C>T	NCBI36
NG_012655.2:g.15583G>A , LRG_340:g.15583G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.926G>A MANE Select	NP_001351.2:p.Gly309Asp
ENST00000355527.8:c.926G>A MANE Select	ENSP00000347717.4:p.Gly309Asp
NM_001163817.1:c.926G>A	NP_001157289.1:p.Gly309Asp
NM_001163817.2:c.926G>A	NP_001157289.1:p.Gly309Asp
NM_001360.2:c.926G>A , LRG_340t1:c.926G>A	NP_001351.2:p.Gly309Asp
ENST00000355527.7:c.926G>A	ENSP00000347717.3:p.Gly309Asp
ENST00000407721.6:c.926G>A	ENSP00000384739.2:p.Gly309Asp
ENST00000525137.1:c.293G>A	ENSP00000435956.1:p.Gly98Asp
ENST00000525346.6:c.926G>A	ENSP00000435707.3:p.Gly309Asp
ENST00000526780.6:c.926G>A	ENSP00000435668.2:p.Gly309Asp
ENST00000527316.6:c.752G>A	ENSP00000435047.2:p.Gly251Asp
ENST00000533800.5:c.176G>A	ENSP00000435011.1:p.Gly59Asp
ENST00000534795.5:c.282G>A
ENST00000682708.1:c.977G>A	ENSP00000506866.1:p.Gly326Asp
ENST00000682880.1:c.926G>A	ENSP00000507520.1:p.Gly309Asp
ENST00000683287.1:c.962G>A	ENSP00000507607.1:p.Gly321Asp
ENST00000683714.1:c.926G>A	ENSP00000508207.1:p.Gly309Asp
ENST00000684396.1:n.966G>A
ENST00000685320.1:c.341G>A	ENSP00000509319.1:p.Gly114Asp
ENST00000690257.1:c.830G>A	ENSP00000510750.1:p.Gly277Asp
XM_011544777.1:c.926G>A	XP_011543079.1:p.Gly309Asp
XM_011544777.2:c.926G>A	XP_011543079.1:p.Gly309Asp