Canonical Allele Identifier: CA381702524

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146860A>T (hg19) ; chr11:g.71435814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435814A>T , CM000673.2:g.71435814A>T	GRCh38
NC_000011.9:g.71146860A>T , CM000673.1:g.71146860A>T	GRCh37
NC_000011.8:g.70824508A>T	NCBI36
NG_012655.2:g.17618T>A , LRG_340:g.17618T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.989T>A	ENSP00000435707.3:p.Val330Glu
ENST00000526780.6:c.989T>A	ENSP00000435668.2:p.Val330Glu
ENST00000527316.6:c.815T>A	ENSP00000435047.2:p.Val272Glu
ENST00000682708.1:c.1040T>A	ENSP00000506866.1:p.Val347Glu
ENST00000683287.1:c.1025T>A	ENSP00000507607.1:p.Val342Glu
ENST00000683714.1:c.997T>A	ENSP00000508207.1:p.Cys333Ser
ENST00000684396.1:n.1029T>A
ENST00000685320.1:c.404T>A	ENSP00000509319.1:p.Val135Glu
ENST00000690257.1:c.893T>A	ENSP00000510750.1:p.Val298Glu
ENST00000355527.8:c.989T>A MANE Select	ENSP00000347717.4:p.Val330Glu
ENST00000355527.7:c.989T>A	ENSP00000347717.3:p.Val330Glu
ENST00000407721.6:c.989T>A	ENSP00000384739.2:p.Val330Glu
ENST00000525137.1:c.490T>A	ENSP00000435956.1:p.Cys164Ser
ENST00000533800.5:c.239T>A	ENSP00000435011.1:p.Val80Glu
ENST00000534795.5:c.319+1998T>A
NM_001163817.1:c.989T>A	NP_001157289.1:p.Val330Glu
NM_001360.2:c.989T>A , LRG_340t1:c.989T>A	NP_001351.2:p.Val330Glu
XM_011544777.1:c.1123T>A	XP_011543079.1:p.Cys375Ser
XM_011544777.2:c.1123T>A	XP_011543079.1:p.Cys375Ser
NM_001163817.2:c.989T>A	NP_001157289.1:p.Val330Glu
NM_001360.3:c.989T>A MANE Select	NP_001351.2:p.Val330Glu