Canonical Allele Identifier: CA381702299

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435762G>A , CM000673.2:g.71435762G>A	GRCh38
NC_000011.9:g.71146808G>A , CM000673.1:g.71146808G>A	GRCh37
NC_000011.8:g.70824456G>A	NCBI36
NG_012655.2:g.17670C>T , LRG_340:g.17670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1041C>T	ENSP00000435707.3:p.Gly347=
ENST00000526780.6:c.1041C>T	ENSP00000435668.2:p.Gly347=
ENST00000527316.6:c.867C>T	ENSP00000435047.2:p.Gly289=
ENST00000682708.1:c.1092C>T	ENSP00000506866.1:p.Gly364=
ENST00000683287.1:c.1077C>T	ENSP00000507607.1:p.Gly359=
ENST00000683714.1:c.1049C>T	ENSP00000508207.1:p.Ala350Val
ENST00000684396.1:n.1081C>T
ENST00000685320.1:c.456C>T	ENSP00000509319.1:p.Gly152=
ENST00000690257.1:c.945C>T	ENSP00000510750.1:p.Gly315=
ENST00000355527.8:c.1041C>T MANE Select	ENSP00000347717.4:p.Gly347=
ENST00000355527.7:c.1041C>T	ENSP00000347717.3:p.Gly347=
ENST00000407721.6:c.1041C>T	ENSP00000384739.2:p.Gly347=
ENST00000525137.1:c.542C>T	ENSP00000435956.1:p.Ala181Val
ENST00000533800.5:c.291C>T	ENSP00000435011.1:p.Gly97=
ENST00000534795.5:c.319+2050C>T
NM_001163817.1:c.1041C>T	NP_001157289.1:p.Gly347=
NM_001360.2:c.1041C>T , LRG_340t1:c.1041C>T	NP_001351.2:p.Gly347=
XM_011544777.1:c.1175C>T	XP_011543079.1:p.Ala392Val
XM_011544777.2:c.1175C>T	XP_011543079.1:p.Ala392Val
NM_001163817.2:c.1041C>T	NP_001157289.1:p.Gly347=
NM_001360.3:c.1041C>T MANE Select	NP_001351.2:p.Gly347=