Canonical Allele Identifier: CA6162291

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435613G>A , CM000673.2:g.71435613G>A	GRCh38
NC_000011.9:g.71146659G>A , CM000673.1:g.71146659G>A	GRCh37
NC_000011.8:g.70824307G>A	NCBI36
NG_012655.2:g.17819C>T , LRG_340:g.17819C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1190C>T MANE Select	NP_001351.2:p.Ser397Leu
ENST00000355527.8:c.1190C>T MANE Select	ENSP00000347717.4:p.Ser397Leu
NM_001163817.1:c.1190C>T	NP_001157289.1:p.Ser397Leu
NM_001163817.2:c.1190C>T	NP_001157289.1:p.Ser397Leu
NM_001360.2:c.1190C>T , LRG_340t1:c.1190C>T	NP_001351.2:p.Ser397Leu
ENST00000355527.7:c.1190C>T	ENSP00000347717.3:p.Ser397Leu
ENST00000407721.6:c.1190C>T	ENSP00000384739.2:p.Ser397Leu
ENST00000525137.1:c.691C>T	ENSP00000435956.1:p.Arg231Trp
ENST00000525346.6:c.1190C>T	ENSP00000435707.3:p.Ser397Leu
ENST00000526780.6:c.1190C>T	ENSP00000435668.2:p.Ser397Leu
ENST00000527316.6:c.1016C>T	ENSP00000435047.2:p.Ser339Leu
ENST00000533800.5:c.440C>T	ENSP00000435011.1:p.Ser147Leu
ENST00000534795.5:c.319+2199C>T
ENST00000682708.1:c.1241C>T	ENSP00000506866.1:p.Ser414Leu
ENST00000683287.1:c.1226C>T	ENSP00000507607.1:p.Ser409Leu
ENST00000683714.1:c.1198C>T	ENSP00000508207.1:p.Arg400Trp
ENST00000684396.1:n.1230C>T
ENST00000685320.1:c.605C>T	ENSP00000509319.1:p.Ser202Leu
ENST00000690257.1:c.1094C>T	ENSP00000510750.1:p.Ser365Leu
XM_011544777.1:c.1324C>T	XP_011543079.1:p.Arg442Trp
XM_011544777.2:c.1324C>T	XP_011543079.1:p.Arg442Trp