Canonical Allele Identifier: CA381701539

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146651A>T (hg19) ; chr11:g.71435605A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435605A>T , CM000673.2:g.71435605A>T	GRCh38
NC_000011.9:g.71146651A>T , CM000673.1:g.71146651A>T	GRCh37
NC_000011.8:g.70824299A>T	NCBI36
NG_012655.2:g.17827T>A , LRG_340:g.17827T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1198T>A	ENSP00000435707.3:p.Trp400Arg
ENST00000526780.6:c.1198T>A	ENSP00000435668.2:p.Trp400Arg
ENST00000527316.6:c.1024T>A	ENSP00000435047.2:p.Trp342Arg
ENST00000682708.1:c.1249T>A	ENSP00000506866.1:p.Trp417Arg
ENST00000683287.1:c.1234T>A	ENSP00000507607.1:p.Trp412Arg
ENST00000683714.1:c.1206T>A	ENSP00000508207.1:p.Ser402=
ENST00000684396.1:n.1238T>A
ENST00000685320.1:c.613T>A	ENSP00000509319.1:p.Trp205Arg
ENST00000690257.1:c.1102T>A	ENSP00000510750.1:p.Trp368Arg
ENST00000355527.8:c.1198T>A MANE Select	ENSP00000347717.4:p.Trp400Arg
ENST00000355527.7:c.1198T>A	ENSP00000347717.3:p.Trp400Arg
ENST00000407721.6:c.1198T>A	ENSP00000384739.2:p.Trp400Arg
ENST00000525137.1:c.699T>A	ENSP00000435956.1:p.Ser233=
ENST00000533800.5:c.448T>A	ENSP00000435011.1:p.Trp150Arg
ENST00000534795.5:c.319+2207T>A
NM_001163817.1:c.1198T>A	NP_001157289.1:p.Trp400Arg
NM_001360.2:c.1198T>A , LRG_340t1:c.1198T>A	NP_001351.2:p.Trp400Arg
XM_011544777.1:c.1332T>A	XP_011543079.1:p.Ser444=
XM_011544777.2:c.1332T>A	XP_011543079.1:p.Ser444=
NM_001163817.2:c.1198T>A	NP_001157289.1:p.Trp400Arg
NM_001360.3:c.1198T>A MANE Select	NP_001351.2:p.Trp400Arg