Canonical Allele Identifier: CA6162260

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435475C>G , CM000673.2:g.71435475C>G	GRCh38
NC_000011.9:g.71146521C>G , CM000673.1:g.71146521C>G	GRCh37
NC_000011.8:g.70824169C>G	NCBI36
NG_012655.2:g.17957G>C , LRG_340:g.17957G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1328G>C MANE Select	NP_001351.2:p.Arg443Pro
ENST00000355527.8:c.1328G>C MANE Select	ENSP00000347717.4:p.Arg443Pro
NM_001163817.1:c.1328G>C	NP_001157289.1:p.Arg443Pro
NM_001163817.2:c.1328G>C	NP_001157289.1:p.Arg443Pro
NM_001360.2:c.1328G>C , LRG_340t1:c.1328G>C	NP_001351.2:p.Arg443Pro
ENST00000355527.7:c.1328G>C	ENSP00000347717.3:p.Arg443Pro
ENST00000407721.6:c.1328G>C	ENSP00000384739.2:p.Arg443Pro
ENST00000525137.1:c.829G>C	ENSP00000435956.1:n.829G>C
ENST00000525346.6:c.1328G>C	ENSP00000435707.3:p.Arg443Pro
ENST00000526780.6:c.1328G>C	ENSP00000435668.2:p.Arg443Pro
ENST00000527316.6:c.1154G>C	ENSP00000435047.2:p.Arg385Pro
ENST00000533800.5:c.578G>C	ENSP00000435011.1:p.Arg193Pro
ENST00000534795.5:c.319+2337G>C
ENST00000682708.1:c.1379G>C	ENSP00000506866.1:p.Arg460Pro
ENST00000683287.1:c.1364G>C	ENSP00000507607.1:p.Arg455Pro
ENST00000683714.1:c.*91G>C	ENSP00000508207.1:n.*91G>C
ENST00000684396.1:n.1368G>C
ENST00000685320.1:c.743G>C	ENSP00000509319.1:p.Arg248Pro
ENST00000690257.1:c.1232G>C	ENSP00000510750.1:p.Arg411Pro
XM_011544777.1:c.*91G>C	XP_011543079.1:n.*91G>C
XM_011544777.2:c.*91G>C	XP_011543079.1:n.*91G>C