Canonical Allele Identifier: CA381703312

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438940G>C , CM000673.2:g.71438940G>C	GRCh38
NC_000011.9:g.71149986G>C , CM000673.1:g.71149986G>C	GRCh37
NC_000011.8:g.70827634G>C	NCBI36
NG_012655.2:g.14492C>G , LRG_340:g.14492C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.770C>G MANE Select	NP_001351.2:p.Ala257Gly
ENST00000355527.8:c.770C>G MANE Select	ENSP00000347717.4:p.Ala257Gly
NM_001163817.1:c.770C>G	NP_001157289.1:p.Ala257Gly
NM_001163817.2:c.770C>G	NP_001157289.1:p.Ala257Gly
NM_001360.2:c.770C>G , LRG_340t1:c.770C>G	NP_001351.2:p.Ala257Gly
ENST00000355527.7:c.770C>G	ENSP00000347717.3:p.Ala257Gly
ENST00000407721.6:c.770C>G	ENSP00000384739.2:p.Ala257Gly
ENST00000525137.1:c.137C>G	ENSP00000435956.1:p.Ala46Gly
ENST00000525346.6:c.770C>G	ENSP00000435707.3:p.Ala257Gly
ENST00000526780.6:c.770C>G	ENSP00000435668.2:p.Ala257Gly
ENST00000527316.5:c.674C>G	ENSP00000435047.1:p.Ala225Gly
ENST00000527316.6:c.596C>G	ENSP00000435047.2:p.Ala199Gly
ENST00000533800.5:c.20C>G	ENSP00000435011.1:p.Ala7Gly
ENST00000534701.1:n.265C>G
ENST00000534795.5:c.126C>G
ENST00000682708.1:c.821C>G	ENSP00000506866.1:p.Ala274Gly
ENST00000682880.1:c.770C>G	ENSP00000507520.1:p.Ala257Gly
ENST00000683287.1:c.806C>G	ENSP00000507607.1:p.Ala269Gly
ENST00000683714.1:c.770C>G	ENSP00000508207.1:p.Ala257Gly
ENST00000684396.1:n.810C>G
ENST00000685320.1:c.185C>G	ENSP00000509319.1:p.Ala62Gly
ENST00000690257.1:c.674C>G	ENSP00000510750.1:p.Ala225Gly
XM_011544777.1:c.770C>G	XP_011543079.1:p.Ala257Gly
XM_011544777.2:c.770C>G	XP_011543079.1:p.Ala257Gly