Canonical Allele Identifier: CA475565515

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435390C>T , CM000673.2:g.71435390C>T	GRCh38
NC_000011.9:g.71146436C>T , CM000673.1:g.71146436C>T	GRCh37
NC_000011.8:g.70824084C>T	NCBI36
NG_012655.2:g.18042G>A , LRG_340:g.18042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1413G>A MANE Select	NP_001351.2:p.Leu471=
ENST00000355527.8:c.1413G>A MANE Select	ENSP00000347717.4:p.Leu471=
NM_001163817.1:c.1413G>A	NP_001157289.1:p.Leu471=
NM_001163817.2:c.1413G>A	NP_001157289.1:p.Leu471=
NM_001360.2:c.1413G>A , LRG_340t1:c.1413G>A	NP_001351.2:p.Leu471=
ENST00000355527.7:c.1413G>A	ENSP00000347717.3:p.Leu471=
ENST00000407721.6:c.1413G>A	ENSP00000384739.2:p.Leu471=
ENST00000525137.1:c.914G>A	ENSP00000435956.1:n.914G>A
ENST00000525346.6:c.1413G>A	ENSP00000435707.3:p.Leu471=
ENST00000526780.6:c.1413G>A	ENSP00000435668.2:p.Leu471=
ENST00000527316.6:c.1239G>A	ENSP00000435047.2:p.Leu413=
ENST00000533800.5:c.611+52G>A	ENSP00000435011.1:n.611+52G>A
ENST00000534795.5:c.319+2422G>A
ENST00000682708.1:c.1464G>A	ENSP00000506866.1:p.Leu488=
ENST00000683287.1:c.1449G>A	ENSP00000507607.1:p.Leu483=
ENST00000683714.1:c.*176G>A	ENSP00000508207.1:n.*176G>A
ENST00000684396.1:n.1453G>A
ENST00000685320.1:c.828G>A	ENSP00000509319.1:p.Leu276=
ENST00000690257.1:c.1317G>A	ENSP00000510750.1:p.Leu439=
XM_011544777.1:c.*176G>A	XP_011543079.1:n.*176G>A
XM_011544777.2:c.*176G>A	XP_011543079.1:n.*176G>A