Canonical Allele Identifier: CA381703399

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438985C>G , CM000673.2:g.71438985C>G	GRCh38
NC_000011.9:g.71150031C>G , CM000673.1:g.71150031C>G	GRCh37
NC_000011.8:g.70827679C>G	NCBI36
NG_012655.2:g.14447G>C , LRG_340:g.14447G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.725G>C MANE Select	NP_001351.2:p.Arg242Pro
ENST00000355527.8:c.725G>C MANE Select	ENSP00000347717.4:p.Arg242Pro
NM_001163817.1:c.725G>C	NP_001157289.1:p.Arg242Pro
NM_001163817.2:c.725G>C	NP_001157289.1:p.Arg242Pro
NM_001360.2:c.725G>C , LRG_340t1:c.725G>C	NP_001351.2:p.Arg242Pro
ENST00000355527.7:c.725G>C	ENSP00000347717.3:p.Arg242Pro
ENST00000407721.6:c.725G>C	ENSP00000384739.2:p.Arg242Pro
ENST00000525137.1:c.92G>C	ENSP00000435956.1:p.Arg31Pro
ENST00000525346.6:c.725G>C	ENSP00000435707.3:p.Arg242Pro
ENST00000526780.6:c.725G>C	ENSP00000435668.2:p.Arg242Pro
ENST00000527316.5:c.629G>C	ENSP00000435047.1:p.Arg210Pro
ENST00000527316.6:c.551G>C	ENSP00000435047.2:p.Arg184Pro
ENST00000534701.1:n.220G>C
ENST00000534795.5:c.81G>C
ENST00000682708.1:c.776G>C	ENSP00000506866.1:p.Arg259Pro
ENST00000682880.1:c.725G>C	ENSP00000507520.1:p.Arg242Pro
ENST00000683287.1:c.761G>C	ENSP00000507607.1:p.Arg254Pro
ENST00000683714.1:c.725G>C	ENSP00000508207.1:p.Arg242Pro
ENST00000684396.1:n.765G>C
ENST00000685320.1:c.140G>C	ENSP00000509319.1:p.Arg47Pro
ENST00000690257.1:c.629G>C	ENSP00000510750.1:p.Arg210Pro
XM_011544777.1:c.725G>C	XP_011543079.1:p.Arg242Pro
XM_011544777.2:c.725G>C	XP_011543079.1:p.Arg242Pro