Canonical Allele Identifier: CA381701383

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146623A>T (hg19) ; chr11:g.71435577A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435577A>T , CM000673.2:g.71435577A>T	GRCh38
NC_000011.9:g.71146623A>T , CM000673.1:g.71146623A>T	GRCh37
NC_000011.8:g.70824271A>T	NCBI36
NG_012655.2:g.17855T>A , LRG_340:g.17855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1226T>A	ENSP00000435707.3:p.Val409Asp
ENST00000526780.6:c.1226T>A	ENSP00000435668.2:p.Val409Asp
ENST00000527316.6:c.1052T>A	ENSP00000435047.2:p.Val351Asp
ENST00000682708.1:c.1277T>A	ENSP00000506866.1:p.Val426Asp
ENST00000683287.1:c.1262T>A	ENSP00000507607.1:p.Val421Asp
ENST00000683714.1:c.1234T>A	ENSP00000508207.1:p.Ser412Thr
ENST00000684396.1:n.1266T>A
ENST00000685320.1:c.641T>A	ENSP00000509319.1:p.Val214Asp
ENST00000690257.1:c.1130T>A	ENSP00000510750.1:p.Val377Asp
ENST00000355527.8:c.1226T>A MANE Select	ENSP00000347717.4:p.Val409Asp
ENST00000355527.7:c.1226T>A	ENSP00000347717.3:p.Val409Asp
ENST00000407721.6:c.1226T>A	ENSP00000384739.2:p.Val409Asp
ENST00000525137.1:c.727T>A	ENSP00000435956.1:p.Ser243Thr
ENST00000533800.5:c.476T>A	ENSP00000435011.1:p.Val159Asp
ENST00000534795.5:c.319+2235T>A
NM_001163817.1:c.1226T>A	NP_001157289.1:p.Val409Asp
NM_001360.2:c.1226T>A , LRG_340t1:c.1226T>A	NP_001351.2:p.Val409Asp
XM_011544777.1:c.1360T>A	XP_011543079.1:p.Ser454Thr
XM_011544777.2:c.1360T>A	XP_011543079.1:p.Ser454Thr
NM_001163817.2:c.1226T>A	NP_001157289.1:p.Val409Asp
NM_001360.3:c.1226T>A MANE Select	NP_001351.2:p.Val409Asp