Canonical Allele Identifier: CA381703063

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148941T>C (hg19) ; chr11:g.71437895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437895T>C , CM000673.2:g.71437895T>C	GRCh38
NC_000011.9:g.71148941T>C , CM000673.1:g.71148941T>C	GRCh37
NC_000011.8:g.70826589T>C	NCBI36
NG_012655.2:g.15537A>G , LRG_340:g.15537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.880A>G	ENSP00000435707.3:p.Thr294Ala
ENST00000526780.6:c.880A>G	ENSP00000435668.2:p.Thr294Ala
ENST00000527316.6:c.706A>G	ENSP00000435047.2:p.Thr236Ala
ENST00000682708.1:c.931A>G	ENSP00000506866.1:p.Thr311Ala
ENST00000682880.1:c.880A>G	ENSP00000507520.1:p.Thr294Ala
ENST00000683287.1:c.916A>G	ENSP00000507607.1:p.Thr306Ala
ENST00000683714.1:c.880A>G	ENSP00000508207.1:p.Thr294Ala
ENST00000684396.1:n.920A>G
ENST00000685320.1:c.295A>G	ENSP00000509319.1:p.Thr99Ala
ENST00000690257.1:c.784A>G	ENSP00000510750.1:p.Thr262Ala
ENST00000355527.8:c.880A>G MANE Select	ENSP00000347717.4:p.Thr294Ala
ENST00000355527.7:c.880A>G	ENSP00000347717.3:p.Thr294Ala
ENST00000407721.6:c.880A>G	ENSP00000384739.2:p.Thr294Ala
ENST00000525137.1:c.247A>G	ENSP00000435956.1:p.Thr83Ala
ENST00000533800.5:c.130A>G	ENSP00000435011.1:p.Thr44Ala
ENST00000534795.5:c.236A>G
NM_001163817.1:c.880A>G	NP_001157289.1:p.Thr294Ala
NM_001360.2:c.880A>G , LRG_340t1:c.880A>G	NP_001351.2:p.Thr294Ala
XM_011544777.1:c.880A>G	XP_011543079.1:p.Thr294Ala
XM_011544777.2:c.880A>G	XP_011543079.1:p.Thr294Ala
NM_001163817.2:c.880A>G	NP_001157289.1:p.Thr294Ala
NM_001360.3:c.880A>G MANE Select	NP_001351.2:p.Thr294Ala