Canonical Allele Identifier: CA381700586

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435427C>T , CM000673.2:g.71435427C>T	GRCh38
NC_000011.9:g.71146473C>T , CM000673.1:g.71146473C>T	GRCh37
NC_000011.8:g.70824121C>T	NCBI36
NG_012655.2:g.18005G>A , LRG_340:g.18005G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1376G>A MANE Select	NP_001351.2:p.Trp459Ter
ENST00000355527.8:c.1376G>A MANE Select	ENSP00000347717.4:p.Trp459Ter
NM_001163817.1:c.1376G>A	NP_001157289.1:p.Trp459Ter
NM_001163817.2:c.1376G>A	NP_001157289.1:p.Trp459Ter
NM_001360.2:c.1376G>A , LRG_340t1:c.1376G>A	NP_001351.2:p.Trp459Ter
ENST00000355527.7:c.1376G>A	ENSP00000347717.3:p.Trp459Ter
ENST00000407721.6:c.1376G>A	ENSP00000384739.2:p.Trp459Ter
ENST00000525137.1:c.877G>A	ENSP00000435956.1:n.877G>A
ENST00000525346.6:c.1376G>A	ENSP00000435707.3:p.Trp459Ter
ENST00000526780.6:c.1376G>A	ENSP00000435668.2:p.Trp459Ter
ENST00000527316.6:c.1202G>A	ENSP00000435047.2:p.Trp401Ter
ENST00000533800.5:c.611+15G>A	ENSP00000435011.1:n.611+15G>A
ENST00000534795.5:c.319+2385G>A
ENST00000682708.1:c.1427G>A	ENSP00000506866.1:p.Trp476Ter
ENST00000683287.1:c.1412G>A	ENSP00000507607.1:p.Trp471Ter
ENST00000683714.1:c.*139G>A	ENSP00000508207.1:n.*139G>A
ENST00000684396.1:n.1416G>A
ENST00000685320.1:c.791G>A	ENSP00000509319.1:p.Trp264Ter
ENST00000690257.1:c.1280G>A	ENSP00000510750.1:p.Trp427Ter
XM_011544777.1:c.*139G>A	XP_011543079.1:n.*139G>A
XM_011544777.2:c.*139G>A	XP_011543079.1:n.*139G>A