Canonical Allele Identifier: CA381703147

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148976A>T (hg19) ; chr11:g.71437930A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437930A>T , CM000673.2:g.71437930A>T	GRCh38
NC_000011.9:g.71148976A>T , CM000673.1:g.71148976A>T	GRCh37
NC_000011.8:g.70826624A>T	NCBI36
NG_012655.2:g.15502T>A , LRG_340:g.15502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.845T>A	ENSP00000435707.3:p.Ile282Asn
ENST00000526780.6:c.845T>A	ENSP00000435668.2:p.Ile282Asn
ENST00000527316.6:c.671T>A	ENSP00000435047.2:p.Ile224Asn
ENST00000682708.1:c.896T>A	ENSP00000506866.1:p.Ile299Asn
ENST00000682880.1:c.845T>A	ENSP00000507520.1:p.Ile282Asn
ENST00000683287.1:c.881T>A	ENSP00000507607.1:p.Ile294Asn
ENST00000683714.1:c.845T>A	ENSP00000508207.1:p.Ile282Asn
ENST00000684396.1:n.885T>A
ENST00000685320.1:c.260T>A	ENSP00000509319.1:p.Ile87Asn
ENST00000690257.1:c.749T>A	ENSP00000510750.1:p.Ile250Asn
ENST00000355527.8:c.845T>A MANE Select	ENSP00000347717.4:p.Ile282Asn
ENST00000355527.7:c.845T>A	ENSP00000347717.3:p.Ile282Asn
ENST00000407721.6:c.845T>A	ENSP00000384739.2:p.Ile282Asn
ENST00000525137.1:c.212T>A	ENSP00000435956.1:p.Ile71Asn
ENST00000527316.5:c.749T>A	ENSP00000435047.1:p.Ile250Asn
ENST00000533800.5:c.95T>A	ENSP00000435011.1:p.Ile32Asn
ENST00000534795.5:c.201T>A
NM_001163817.1:c.845T>A	NP_001157289.1:p.Ile282Asn
NM_001360.2:c.845T>A , LRG_340t1:c.845T>A	NP_001351.2:p.Ile282Asn
XM_011544777.1:c.845T>A	XP_011543079.1:p.Ile282Asn
XM_011544777.2:c.845T>A	XP_011543079.1:p.Ile282Asn
NM_001163817.2:c.845T>A	NP_001157289.1:p.Ile282Asn
NM_001360.3:c.845T>A MANE Select	NP_001351.2:p.Ile282Asn