Canonical Allele Identifier: CA381700493

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435406A>G , CM000673.2:g.71435406A>G	GRCh38
NC_000011.9:g.71146452A>G , CM000673.1:g.71146452A>G	GRCh37
NC_000011.8:g.70824100A>G	NCBI36
NG_012655.2:g.18026T>C , LRG_340:g.18026T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1397T>C MANE Select	NP_001351.2:p.Val466Ala
ENST00000355527.8:c.1397T>C MANE Select	ENSP00000347717.4:p.Val466Ala
NM_001163817.1:c.1397T>C	NP_001157289.1:p.Val466Ala
NM_001163817.2:c.1397T>C	NP_001157289.1:p.Val466Ala
NM_001360.2:c.1397T>C , LRG_340t1:c.1397T>C	NP_001351.2:p.Val466Ala
ENST00000355527.7:c.1397T>C	ENSP00000347717.3:p.Val466Ala
ENST00000407721.6:c.1397T>C	ENSP00000384739.2:p.Val466Ala
ENST00000525137.1:c.898T>C	ENSP00000435956.1:n.898T>C
ENST00000525346.6:c.1397T>C	ENSP00000435707.3:p.Val466Ala
ENST00000526780.6:c.1397T>C	ENSP00000435668.2:p.Val466Ala
ENST00000527316.6:c.1223T>C	ENSP00000435047.2:p.Val408Ala
ENST00000533800.5:c.611+36T>C	ENSP00000435011.1:n.611+36T>C
ENST00000534795.5:c.319+2406T>C
ENST00000682708.1:c.1448T>C	ENSP00000506866.1:p.Val483Ala
ENST00000683287.1:c.1433T>C	ENSP00000507607.1:p.Val478Ala
ENST00000683714.1:c.*160T>C	ENSP00000508207.1:n.*160T>C
ENST00000684396.1:n.1437T>C
ENST00000685320.1:c.812T>C	ENSP00000509319.1:p.Val271Ala
ENST00000690257.1:c.1301T>C	ENSP00000510750.1:p.Val434Ala
XM_011544777.1:c.*160T>C	XP_011543079.1:n.*160T>C
XM_011544777.2:c.*160T>C	XP_011543079.1:n.*160T>C