Canonical Allele Identifier: CA381702140

Gene: DHCR7

Linked Data

• dbSNP Id: rs1591107488
• MyVariant Identifiers: chr11:g.71146773T>G (hg19) ; chr11:g.71435727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435727T>G , CM000673.2:g.71435727T>G	GRCh38
NC_000011.9:g.71146773T>G , CM000673.1:g.71146773T>G	GRCh37
NC_000011.8:g.70824421T>G	NCBI36
NG_012655.2:g.17705A>C , LRG_340:g.17705A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1076A>C	ENSP00000435707.3:p.Asp359Ala
ENST00000526780.6:c.1076A>C	ENSP00000435668.2:p.Asp359Ala
ENST00000527316.6:c.902A>C	ENSP00000435047.2:p.Asp301Ala
ENST00000682708.1:c.1127A>C	ENSP00000506866.1:p.Asp376Ala
ENST00000683287.1:c.1112A>C	ENSP00000507607.1:p.Asp371Ala
ENST00000683714.1:c.1084A>C	ENSP00000508207.1:p.Thr362Pro
ENST00000684396.1:n.1116A>C
ENST00000685320.1:c.491A>C	ENSP00000509319.1:p.Asp164Ala
ENST00000690257.1:c.980A>C	ENSP00000510750.1:p.Asp327Ala
ENST00000355527.8:c.1076A>C MANE Select	ENSP00000347717.4:p.Asp359Ala
ENST00000355527.7:c.1076A>C	ENSP00000347717.3:p.Asp359Ala
ENST00000407721.6:c.1076A>C	ENSP00000384739.2:p.Asp359Ala
ENST00000525137.1:c.577A>C	ENSP00000435956.1:p.Thr193Pro
ENST00000533800.5:c.326A>C	ENSP00000435011.1:p.Asp109Ala
ENST00000534795.5:c.319+2085A>C
NM_001163817.1:c.1076A>C	NP_001157289.1:p.Asp359Ala
NM_001360.2:c.1076A>C , LRG_340t1:c.1076A>C	NP_001351.2:p.Asp359Ala
XM_011544777.1:c.1210A>C	XP_011543079.1:p.Thr404Pro
XM_011544777.2:c.1210A>C	XP_011543079.1:p.Thr404Pro
NM_001163817.2:c.1076A>C	NP_001157289.1:p.Asp359Ala
NM_001360.3:c.1076A>C MANE Select	NP_001351.2:p.Asp359Ala