Canonical Allele Identifier: CA381696138

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71155077T>G (hg19) ; chr11:g.71444031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444031T>G , CM000673.2:g.71444031T>G	GRCh38
NC_000011.9:g.71155077T>G , CM000673.1:g.71155077T>G	GRCh37
NC_000011.8:g.70832725T>G	NCBI36
NG_012655.2:g.9401A>C , LRG_340:g.9401A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.283A>C	ENSP00000435707.3:p.Lys95Gln
ENST00000526780.6:c.283A>C	ENSP00000435668.2:p.Lys95Gln
ENST00000527316.6:c.109A>C	ENSP00000435047.2:p.Lys37Gln
ENST00000682708.1:c.283A>C	ENSP00000506866.1:p.Lys95Gln
ENST00000682880.1:c.283A>C	ENSP00000507520.1:p.Lys95Gln
ENST00000683287.1:c.283A>C	ENSP00000507607.1:p.Lys95Gln
ENST00000683714.1:c.283A>C	ENSP00000508207.1:p.Lys95Gln
ENST00000683874.1:n.560A>C
ENST00000685320.1:c.-303A>C	ENSP00000509319.1:n.-303A>C
ENST00000690257.1:c.187A>C	ENSP00000510750.1:p.Lys63Gln
ENST00000355527.8:c.283A>C MANE Select	ENSP00000347717.4:p.Lys95Gln
ENST00000355527.7:c.283A>C	ENSP00000347717.3:p.Lys95Gln
ENST00000407721.6:c.283A>C	ENSP00000384739.2:p.Lys95Gln
ENST00000525346.5:c.283A>C	ENSP00000435707.2:p.Lys95Gln
ENST00000526780.5:c.283A>C	ENSP00000435668.1:p.Lys95Gln
ENST00000527316.5:c.187A>C	ENSP00000435047.1:p.Lys63Gln
ENST00000531364.5:c.283A>C	ENSP00000432589.1:p.Lys95Gln
NM_001163817.1:c.283A>C	NP_001157289.1:p.Lys95Gln
NM_001360.2:c.283A>C , LRG_340t1:c.283A>C	NP_001351.2:p.Lys95Gln
XM_011544777.1:c.283A>C	XP_011543079.1:p.Lys95Gln
XM_011544777.2:c.283A>C	XP_011543079.1:p.Lys95Gln
NM_001163817.2:c.283A>C	NP_001157289.1:p.Lys95Gln
NM_001360.3:c.283A>C MANE Select	NP_001351.2:p.Lys95Gln