Canonical Allele Identifier: CA381703095

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437909G>C , CM000673.2:g.71437909G>C	GRCh38
NC_000011.9:g.71148955G>C , CM000673.1:g.71148955G>C	GRCh37
NC_000011.8:g.70826603G>C	NCBI36
NG_012655.2:g.15523C>G , LRG_340:g.15523C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.866C>G MANE Select	NP_001351.2:p.Thr289Ser
ENST00000355527.8:c.866C>G MANE Select	ENSP00000347717.4:p.Thr289Ser
NM_001163817.1:c.866C>G	NP_001157289.1:p.Thr289Ser
NM_001163817.2:c.866C>G	NP_001157289.1:p.Thr289Ser
NM_001360.2:c.866C>G , LRG_340t1:c.866C>G	NP_001351.2:p.Thr289Ser
ENST00000355527.7:c.866C>G	ENSP00000347717.3:p.Thr289Ser
ENST00000407721.6:c.866C>G	ENSP00000384739.2:p.Thr289Ser
ENST00000525137.1:c.233C>G	ENSP00000435956.1:p.Thr78Ser
ENST00000525346.6:c.866C>G	ENSP00000435707.3:p.Thr289Ser
ENST00000526780.6:c.866C>G	ENSP00000435668.2:p.Thr289Ser
ENST00000527316.5:c.770C>G	ENSP00000435047.1:p.Thr257Ser
ENST00000527316.6:c.692C>G	ENSP00000435047.2:p.Thr231Ser
ENST00000533800.5:c.116C>G	ENSP00000435011.1:p.Thr39Ser
ENST00000534795.5:c.222C>G
ENST00000682708.1:c.917C>G	ENSP00000506866.1:p.Thr306Ser
ENST00000682880.1:c.866C>G	ENSP00000507520.1:p.Thr289Ser
ENST00000683287.1:c.902C>G	ENSP00000507607.1:p.Thr301Ser
ENST00000683714.1:c.866C>G	ENSP00000508207.1:p.Thr289Ser
ENST00000684396.1:n.906C>G
ENST00000685320.1:c.281C>G	ENSP00000509319.1:p.Thr94Ser
ENST00000690257.1:c.770C>G	ENSP00000510750.1:p.Thr257Ser
XM_011544777.1:c.866C>G	XP_011543079.1:p.Thr289Ser
XM_011544777.2:c.866C>G	XP_011543079.1:p.Thr289Ser