Canonical Allele Identifier: CA381702971

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71437855-C-T
• MyVariant Identifiers: chr11:g.71148901C>T (hg19) ; chr11:g.71437855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437855C>T , CM000673.2:g.71437855C>T	GRCh38
NC_000011.9:g.71148901C>T , CM000673.1:g.71148901C>T	GRCh37
NC_000011.8:g.70826549C>T	NCBI36
NG_012655.2:g.15577G>A , LRG_340:g.15577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.920G>A	ENSP00000435707.3:p.Gly307Asp
ENST00000526780.6:c.920G>A	ENSP00000435668.2:p.Gly307Asp
ENST00000527316.6:c.746G>A	ENSP00000435047.2:p.Gly249Asp
ENST00000682708.1:c.971G>A	ENSP00000506866.1:p.Gly324Asp
ENST00000682880.1:c.920G>A	ENSP00000507520.1:p.Gly307Asp
ENST00000683287.1:c.956G>A	ENSP00000507607.1:p.Gly319Asp
ENST00000683714.1:c.920G>A	ENSP00000508207.1:p.Gly307Asp
ENST00000684396.1:n.960G>A
ENST00000685320.1:c.335G>A	ENSP00000509319.1:p.Gly112Asp
ENST00000690257.1:c.824G>A	ENSP00000510750.1:p.Gly275Asp
ENST00000355527.8:c.920G>A MANE Select	ENSP00000347717.4:p.Gly307Asp
ENST00000355527.7:c.920G>A	ENSP00000347717.3:p.Gly307Asp
ENST00000407721.6:c.920G>A	ENSP00000384739.2:p.Gly307Asp
ENST00000525137.1:c.287G>A	ENSP00000435956.1:p.Gly96Asp
ENST00000533800.5:c.170G>A	ENSP00000435011.1:p.Gly57Asp
ENST00000534795.5:c.276G>A
NM_001163817.1:c.920G>A	NP_001157289.1:p.Gly307Asp
NM_001360.2:c.920G>A , LRG_340t1:c.920G>A	NP_001351.2:p.Gly307Asp
XM_011544777.1:c.920G>A	XP_011543079.1:p.Gly307Asp
XM_011544777.2:c.920G>A	XP_011543079.1:p.Gly307Asp
NM_001163817.2:c.920G>A	NP_001157289.1:p.Gly307Asp
NM_001360.3:c.920G>A MANE Select	NP_001351.2:p.Gly307Asp