Canonical Allele Identifier: CA381701393

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435579G>C , CM000673.2:g.71435579G>C	GRCh38
NC_000011.9:g.71146625G>C , CM000673.1:g.71146625G>C	GRCh37
NC_000011.8:g.70824273G>C	NCBI36
NG_012655.2:g.17853C>G , LRG_340:g.17853C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1224C>G MANE Select	NP_001351.2:p.Tyr408Ter
ENST00000355527.8:c.1224C>G MANE Select	ENSP00000347717.4:p.Tyr408Ter
NM_001163817.1:c.1224C>G	NP_001157289.1:p.Tyr408Ter
NM_001163817.2:c.1224C>G	NP_001157289.1:p.Tyr408Ter
NM_001360.2:c.1224C>G , LRG_340t1:c.1224C>G	NP_001351.2:p.Tyr408Ter
ENST00000355527.7:c.1224C>G	ENSP00000347717.3:p.Tyr408Ter
ENST00000407721.6:c.1224C>G	ENSP00000384739.2:p.Tyr408Ter
ENST00000525137.1:c.725C>G	ENSP00000435956.1:p.Thr242Arg
ENST00000525346.6:c.1224C>G	ENSP00000435707.3:p.Tyr408Ter
ENST00000526780.6:c.1224C>G	ENSP00000435668.2:p.Tyr408Ter
ENST00000527316.6:c.1050C>G	ENSP00000435047.2:p.Tyr350Ter
ENST00000533800.5:c.474C>G	ENSP00000435011.1:p.Tyr158Ter
ENST00000534795.5:c.319+2233C>G
ENST00000682708.1:c.1275C>G	ENSP00000506866.1:p.Tyr425Ter
ENST00000683287.1:c.1260C>G	ENSP00000507607.1:p.Tyr420Ter
ENST00000683714.1:c.1232C>G	ENSP00000508207.1:p.Thr411Arg
ENST00000684396.1:n.1264C>G
ENST00000685320.1:c.639C>G	ENSP00000509319.1:p.Tyr213Ter
ENST00000690257.1:c.1128C>G	ENSP00000510750.1:p.Tyr376Ter
XM_011544777.1:c.1358C>G	XP_011543079.1:p.Thr453Arg
XM_011544777.2:c.1358C>G	XP_011543079.1:p.Thr453Arg