Canonical Allele Identifier: CA381702497

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146851G>T (hg19) ; chr11:g.71435805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435805G>T , CM000673.2:g.71435805G>T	GRCh38
NC_000011.9:g.71146851G>T , CM000673.1:g.71146851G>T	GRCh37
NC_000011.8:g.70824499G>T	NCBI36
NG_012655.2:g.17627C>A , LRG_340:g.17627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.998C>A	ENSP00000435707.3:p.Ser333Tyr
ENST00000526780.6:c.998C>A	ENSP00000435668.2:p.Ser333Tyr
ENST00000527316.6:c.824C>A	ENSP00000435047.2:p.Ser275Tyr
ENST00000682708.1:c.1049C>A	ENSP00000506866.1:p.Ser350Tyr
ENST00000683287.1:c.1034C>A	ENSP00000507607.1:p.Ser345Tyr
ENST00000683714.1:c.1006C>A	ENSP00000508207.1:p.Pro336Thr
ENST00000684396.1:n.1038C>A
ENST00000685320.1:c.413C>A	ENSP00000509319.1:p.Ser138Tyr
ENST00000690257.1:c.902C>A	ENSP00000510750.1:p.Ser301Tyr
ENST00000355527.8:c.998C>A MANE Select	ENSP00000347717.4:p.Ser333Tyr
ENST00000355527.7:c.998C>A	ENSP00000347717.3:p.Ser333Tyr
ENST00000407721.6:c.998C>A	ENSP00000384739.2:p.Ser333Tyr
ENST00000525137.1:c.499C>A	ENSP00000435956.1:p.Pro167Thr
ENST00000533800.5:c.248C>A	ENSP00000435011.1:p.Ser83Tyr
ENST00000534795.5:c.319+2007C>A
NM_001163817.1:c.998C>A	NP_001157289.1:p.Ser333Tyr
NM_001360.2:c.998C>A , LRG_340t1:c.998C>A	NP_001351.2:p.Ser333Tyr
XM_011544777.1:c.1132C>A	XP_011543079.1:p.Pro378Thr
XM_011544777.2:c.1132C>A	XP_011543079.1:p.Pro378Thr
NM_001163817.2:c.998C>A	NP_001157289.1:p.Ser333Tyr
NM_001360.3:c.998C>A MANE Select	NP_001351.2:p.Ser333Tyr