Canonical Allele Identifier: CA475567193

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148876A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437830A>T , CM000673.2:g.71437830A>T	GRCh38
NC_000011.9:g.71148876A>T , CM000673.1:g.71148876A>T	GRCh37
NC_000011.8:g.70826524A>T	NCBI36
NG_012655.2:g.15602T>A , LRG_340:g.15602T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.945T>A	ENSP00000435707.3:p.Pro315=
ENST00000526780.6:c.945T>A	ENSP00000435668.2:p.Pro315=
ENST00000527316.6:c.771T>A	ENSP00000435047.2:p.Pro257=
ENST00000682708.1:c.996T>A	ENSP00000506866.1:p.Pro332=
ENST00000682880.1:c.945T>A	ENSP00000507520.1:p.Pro315=
ENST00000683287.1:c.981T>A	ENSP00000507607.1:p.Pro327=
ENST00000683714.1:c.945T>A	ENSP00000508207.1:p.Pro315=
ENST00000684396.1:n.985T>A
ENST00000685320.1:c.360T>A	ENSP00000509319.1:p.Pro120=
ENST00000690257.1:c.849T>A	ENSP00000510750.1:p.Pro283=
ENST00000355527.8:c.945T>A MANE Select	ENSP00000347717.4:p.Pro315=
ENST00000355527.7:c.945T>A	ENSP00000347717.3:p.Pro315=
ENST00000407721.6:c.945T>A	ENSP00000384739.2:p.Pro315=
ENST00000525137.1:c.312T>A	ENSP00000435956.1:p.Pro104=
ENST00000533800.5:c.195T>A	ENSP00000435011.1:p.Pro65=
ENST00000534795.5:c.301T>A
NM_001163817.1:c.945T>A	NP_001157289.1:p.Pro315=
NM_001360.2:c.945T>A , LRG_340t1:c.945T>A	NP_001351.2:p.Pro315=
XM_011544777.1:c.945T>A	XP_011543079.1:p.Pro315=
XM_011544777.2:c.945T>A	XP_011543079.1:p.Pro315=
NM_001163817.2:c.945T>A	NP_001157289.1:p.Pro315=
NM_001360.3:c.945T>A MANE Select	NP_001351.2:p.Pro315=