Canonical Allele Identifier: CA381702500

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146852A>G (hg19) ; chr11:g.71435806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435806A>G , CM000673.2:g.71435806A>G	GRCh38
NC_000011.9:g.71146852A>G , CM000673.1:g.71146852A>G	GRCh37
NC_000011.8:g.70824500A>G	NCBI36
NG_012655.2:g.17626T>C , LRG_340:g.17626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.997T>C	ENSP00000435707.3:p.Ser333Pro
ENST00000526780.6:c.997T>C	ENSP00000435668.2:p.Ser333Pro
ENST00000527316.6:c.823T>C	ENSP00000435047.2:p.Ser275Pro
ENST00000682708.1:c.1048T>C	ENSP00000506866.1:p.Ser350Pro
ENST00000683287.1:c.1033T>C	ENSP00000507607.1:p.Ser345Pro
ENST00000683714.1:c.1005T>C	ENSP00000508207.1:p.Cys335=
ENST00000684396.1:n.1037T>C
ENST00000685320.1:c.412T>C	ENSP00000509319.1:p.Ser138Pro
ENST00000690257.1:c.901T>C	ENSP00000510750.1:p.Ser301Pro
ENST00000355527.8:c.997T>C MANE Select	ENSP00000347717.4:p.Ser333Pro
ENST00000355527.7:c.997T>C	ENSP00000347717.3:p.Ser333Pro
ENST00000407721.6:c.997T>C	ENSP00000384739.2:p.Ser333Pro
ENST00000525137.1:c.498T>C	ENSP00000435956.1:p.Cys166=
ENST00000533800.5:c.247T>C	ENSP00000435011.1:p.Ser83Pro
ENST00000534795.5:c.319+2006T>C
NM_001163817.1:c.997T>C	NP_001157289.1:p.Ser333Pro
NM_001360.2:c.997T>C , LRG_340t1:c.997T>C	NP_001351.2:p.Ser333Pro
XM_011544777.1:c.1131T>C	XP_011543079.1:p.Cys377=
XM_011544777.2:c.1131T>C	XP_011543079.1:p.Cys377=
NM_001163817.2:c.997T>C	NP_001157289.1:p.Ser333Pro
NM_001360.3:c.997T>C MANE Select	NP_001351.2:p.Ser333Pro