Canonical Allele Identifier: CA381701225

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146588C>T (hg19) ; chr11:g.71435542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435542C>T , CM000673.2:g.71435542C>T	GRCh38
NC_000011.9:g.71146588C>T , CM000673.1:g.71146588C>T	GRCh37
NC_000011.8:g.70824236C>T	NCBI36
NG_012655.2:g.17890G>A , LRG_340:g.17890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1261G>A	ENSP00000435707.3:p.Ala421Thr
ENST00000526780.6:c.1261G>A	ENSP00000435668.2:p.Ala421Thr
ENST00000527316.6:c.1087G>A	ENSP00000435047.2:p.Ala363Thr
ENST00000682708.1:c.1312G>A	ENSP00000506866.1:p.Ala438Thr
ENST00000683287.1:c.1297G>A	ENSP00000507607.1:p.Ala433Thr
ENST00000683714.1:c.*24G>A	ENSP00000508207.1:n.*24G>A
ENST00000684396.1:n.1301G>A
ENST00000685320.1:c.676G>A	ENSP00000509319.1:p.Ala226Thr
ENST00000690257.1:c.1165G>A	ENSP00000510750.1:p.Ala389Thr
ENST00000355527.8:c.1261G>A MANE Select	ENSP00000347717.4:p.Ala421Thr
ENST00000355527.7:c.1261G>A	ENSP00000347717.3:p.Ala421Thr
ENST00000407721.6:c.1261G>A	ENSP00000384739.2:p.Ala421Thr
ENST00000525137.1:c.762G>A	ENSP00000435956.1:n.762G>A
ENST00000533800.5:c.511G>A	ENSP00000435011.1:p.Ala171Thr
ENST00000534795.5:c.319+2270G>A
NM_001163817.1:c.1261G>A	NP_001157289.1:p.Ala421Thr
NM_001360.2:c.1261G>A , LRG_340t1:c.1261G>A	NP_001351.2:p.Ala421Thr
XM_011544777.1:c.*24G>A	XP_011543079.1:n.*24G>A
XM_011544777.2:c.*24G>A	XP_011543079.1:n.*24G>A
NM_001163817.2:c.1261G>A	NP_001157289.1:p.Ala421Thr
NM_001360.3:c.1261G>A MANE Select	NP_001351.2:p.Ala421Thr