Canonical Allele Identifier: CA381703552

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71439034T>C , CM000673.2:g.71439034T>C	GRCh38
NC_000011.9:g.71150080T>C , CM000673.1:g.71150080T>C	GRCh37
NC_000011.8:g.70827728T>C	NCBI36
NG_012655.2:g.14398A>G , LRG_340:g.14398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.676A>G	ENSP00000435707.3:p.Asn226Asp
ENST00000526780.6:c.676A>G	ENSP00000435668.2:p.Asn226Asp
ENST00000527316.6:c.502A>G	ENSP00000435047.2:p.Asn168Asp
ENST00000682708.1:c.727A>G	ENSP00000506866.1:p.Asn243Asp
ENST00000682880.1:c.676A>G	ENSP00000507520.1:p.Asn226Asp
ENST00000683287.1:c.712A>G	ENSP00000507607.1:p.Asn238Asp
ENST00000683714.1:c.676A>G	ENSP00000508207.1:p.Asn226Asp
ENST00000684396.1:n.716A>G
ENST00000685320.1:c.91A>G	ENSP00000509319.1:p.Asn31Asp
ENST00000690257.1:c.580A>G	ENSP00000510750.1:p.Asn194Asp
ENST00000355527.8:c.676A>G MANE Select	ENSP00000347717.4:p.Asn226Asp
ENST00000355527.7:c.676A>G	ENSP00000347717.3:p.Asn226Asp
ENST00000407721.6:c.676A>G	ENSP00000384739.2:p.Asn226Asp
ENST00000525137.1:c.43A>G	ENSP00000435956.1:p.Asn15Asp
ENST00000527316.5:c.580A>G	ENSP00000435047.1:p.Asn194Asp
ENST00000534701.1:n.171A>G
ENST00000534795.5:c.32A>G
NM_001163817.1:c.676A>G	NP_001157289.1:p.Asn226Asp
NM_001360.2:c.676A>G , LRG_340t1:c.676A>G	NP_001351.2:p.Asn226Asp
XM_011544777.1:c.676A>G	XP_011543079.1:p.Asn226Asp
XM_011544777.2:c.676A>G	XP_011543079.1:p.Asn226Asp
NM_001163817.2:c.676A>G	NP_001157289.1:p.Asn226Asp
NM_001360.3:c.676A>G MANE Select	NP_001351.2:p.Asn226Asp