Canonical Allele Identifier: CA381702539

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146866T>C (hg19) ; chr11:g.71435820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435820T>C , CM000673.2:g.71435820T>C	GRCh38
NC_000011.9:g.71146866T>C , CM000673.1:g.71146866T>C	GRCh37
NC_000011.8:g.70824514T>C	NCBI36
NG_012655.2:g.17612A>G , LRG_340:g.17612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.983A>G	ENSP00000435707.3:p.His328Arg
ENST00000526780.6:c.983A>G	ENSP00000435668.2:p.His328Arg
ENST00000527316.6:c.809A>G	ENSP00000435047.2:p.His270Arg
ENST00000682708.1:c.1034A>G	ENSP00000506866.1:p.His345Arg
ENST00000683287.1:c.1019A>G	ENSP00000507607.1:p.His340Arg
ENST00000683714.1:c.991A>G	ENSP00000508207.1:p.Thr331Ala
ENST00000684396.1:n.1023A>G
ENST00000685320.1:c.398A>G	ENSP00000509319.1:p.His133Arg
ENST00000690257.1:c.887A>G	ENSP00000510750.1:p.His296Arg
ENST00000355527.8:c.983A>G MANE Select	ENSP00000347717.4:p.His328Arg
ENST00000355527.7:c.983A>G	ENSP00000347717.3:p.His328Arg
ENST00000407721.6:c.983A>G	ENSP00000384739.2:p.His328Arg
ENST00000525137.1:c.484A>G	ENSP00000435956.1:p.Thr162Ala
ENST00000533800.5:c.233A>G	ENSP00000435011.1:p.His78Arg
ENST00000534795.5:c.319+1992A>G
NM_001163817.1:c.983A>G	NP_001157289.1:p.His328Arg
NM_001360.2:c.983A>G , LRG_340t1:c.983A>G	NP_001351.2:p.His328Arg
XM_011544777.1:c.1117A>G	XP_011543079.1:p.Thr373Ala
XM_011544777.2:c.1117A>G	XP_011543079.1:p.Thr373Ala
NM_001163817.2:c.983A>G	NP_001157289.1:p.His328Arg
NM_001360.3:c.983A>G MANE Select	NP_001351.2:p.His328Arg