Canonical Allele Identifier: CA381702918

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71437832-G-T
• MyVariant Identifiers: chr11:g.71148878G>T (hg19) ; chr11:g.71437832G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437832G>T , CM000673.2:g.71437832G>T	GRCh38
NC_000011.9:g.71148878G>T , CM000673.1:g.71148878G>T	GRCh37
NC_000011.8:g.70826526G>T	NCBI36
NG_012655.2:g.15600C>A , LRG_340:g.15600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.943C>A	ENSP00000435707.3:p.Pro315Thr
ENST00000526780.6:c.943C>A	ENSP00000435668.2:p.Pro315Thr
ENST00000527316.6:c.769C>A	ENSP00000435047.2:p.Pro257Thr
ENST00000682708.1:c.994C>A	ENSP00000506866.1:p.Pro332Thr
ENST00000682880.1:c.943C>A	ENSP00000507520.1:p.Pro315Thr
ENST00000683287.1:c.979C>A	ENSP00000507607.1:p.Pro327Thr
ENST00000683714.1:c.943C>A	ENSP00000508207.1:p.Pro315Thr
ENST00000684396.1:n.983C>A
ENST00000685320.1:c.358C>A	ENSP00000509319.1:p.Pro120Thr
ENST00000690257.1:c.847C>A	ENSP00000510750.1:p.Pro283Thr
ENST00000355527.8:c.943C>A MANE Select	ENSP00000347717.4:p.Pro315Thr
ENST00000355527.7:c.943C>A	ENSP00000347717.3:p.Pro315Thr
ENST00000407721.6:c.943C>A	ENSP00000384739.2:p.Pro315Thr
ENST00000525137.1:c.310C>A	ENSP00000435956.1:p.Pro104Thr
ENST00000533800.5:c.193C>A	ENSP00000435011.1:p.Pro65Thr
ENST00000534795.5:c.299C>A
NM_001163817.1:c.943C>A	NP_001157289.1:p.Pro315Thr
NM_001360.2:c.943C>A , LRG_340t1:c.943C>A	NP_001351.2:p.Pro315Thr
XM_011544777.1:c.943C>A	XP_011543079.1:p.Pro315Thr
XM_011544777.2:c.943C>A	XP_011543079.1:p.Pro315Thr
NM_001163817.2:c.943C>A	NP_001157289.1:p.Pro315Thr
NM_001360.3:c.943C>A MANE Select	NP_001351.2:p.Pro315Thr