Canonical Allele Identifier: CA475518201

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441247G>A , CM000673.2:g.71441247G>A	GRCh38
NC_000011.9:g.71152293G>A , CM000673.1:g.71152293G>A	GRCh37
NC_000011.8:g.70829941G>A	NCBI36
NG_012655.2:g.12185C>T , LRG_340:g.12185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.606C>T	ENSP00000435707.3:p.Phe202=
ENST00000526780.6:c.606C>T	ENSP00000435668.2:p.Phe202=
ENST00000527316.6:c.432C>T	ENSP00000435047.2:p.Phe144=
ENST00000682708.1:c.606C>T	ENSP00000506866.1:p.Phe202=
ENST00000682880.1:c.606C>T	ENSP00000507520.1:p.Phe202=
ENST00000683287.1:c.642C>T	ENSP00000507607.1:p.Phe214=
ENST00000683714.1:c.606C>T	ENSP00000508207.1:p.Phe202=
ENST00000683874.1:n.883C>T
ENST00000685320.1:c.21C>T	ENSP00000509319.1:p.Phe7=
ENST00000690257.1:c.510C>T	ENSP00000510750.1:p.Phe170=
ENST00000355527.8:c.606C>T MANE Select	ENSP00000347717.4:p.Phe202=
ENST00000355527.7:c.606C>T	ENSP00000347717.3:p.Phe202=
ENST00000407721.6:c.606C>T	ENSP00000384739.2:p.Phe202=
ENST00000527316.5:c.510C>T	ENSP00000435047.1:p.Phe170=
ENST00000534701.1:n.101C>T
NM_001163817.1:c.606C>T	NP_001157289.1:p.Phe202=
NM_001360.2:c.606C>T , LRG_340t1:c.606C>T	NP_001351.2:p.Phe202=
XM_011544777.1:c.606C>T	XP_011543079.1:p.Phe202=
XM_011544777.2:c.606C>T	XP_011543079.1:p.Phe202=
NM_001163817.2:c.606C>T	NP_001157289.1:p.Phe202=
NM_001360.3:c.606C>T MANE Select	NP_001351.2:p.Phe202=