Canonical Allele Identifier: CA1981490235

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442320G= , CM000673.2:g.71442320G=	GRCh38
NC_000011.9:g.71153366G= , CM000673.1:g.71153366G=	GRCh37
NC_000011.8:g.70831014G=	NCBI36
NG_012655.2:g.11112C= , LRG_340:g.11112C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.355C=	ENSP00000435707.3:p.His119=
ENST00000526780.6:c.355C=	ENSP00000435668.2:p.His119=
ENST00000527316.6:c.181C=	ENSP00000435047.2:p.His61=
ENST00000682708.1:c.355C=	ENSP00000506866.1:p.His119=
ENST00000682880.1:c.355C=	ENSP00000507520.1:p.His119=
ENST00000683287.1:c.391C=	ENSP00000507607.1:p.His131=
ENST00000683714.1:c.355C=	ENSP00000508207.1:p.His119=
ENST00000683874.1:n.632C=
ENST00000685320.1:c.-231C=	ENSP00000509319.1:n.-231C=
ENST00000690257.1:c.259C=	ENSP00000510750.1:p.His87=
ENST00000355527.8:c.355C= MANE Select	ENSP00000347717.4:p.His119=
ENST00000355527.7:c.355C=	ENSP00000347717.3:p.His119=
ENST00000407721.6:c.355C=	ENSP00000384739.2:p.His119=
ENST00000526780.5:c.355C=	ENSP00000435668.1:p.His119=
ENST00000527316.5:c.259C=	ENSP00000435047.1:p.His87=
NM_001163817.1:c.355C=	NP_001157289.1:p.His119=
NM_001360.2:c.355C= , LRG_340t1:c.355C=	NP_001351.2:p.His119=
XM_011544777.1:c.355C=	XP_011543079.1:p.His119=
XM_011544777.2:c.355C=	XP_011543079.1:p.His119=
NM_001163817.2:c.355C=	NP_001157289.1:p.His119=
NM_001360.3:c.355C= MANE Select	NP_001351.2:p.His119=