Canonical Allele Identifier: CA413146155

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561525A>C (hg19) ; chrX:g.53534564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534564A>C , CM000685.2:g.53534564A>C	GRCh38
NC_000023.10:g.53561525A>C , CM000685.1:g.53561525A>C	GRCh37
NC_000023.9:g.53578250A>C	NCBI36
NG_016261.2:g.157170T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12567T>G	ENSP00000515693.1:p.Asp4189Glu
ENST00000262854.11:c.12783T>G MANE Select	ENSP00000262854.6:p.Asp4261Glu
ENST00000262854.10:c.12783T>G	ENSP00000262854.6:p.Asp4261Glu
ENST00000342160.7:c.12783T>G	ENSP00000340648.3:p.Asp4261Glu
ENST00000426907.5:c.3250T>G
ENST00000488459.1:n.96T>G
ENST00000612484.4:c.12756T>G	ENSP00000479451.1:p.Asp4252Glu
NM_031407.6:c.12783T>G	NP_113584.3:p.Asp4261Glu
XM_005261965.2:c.12783T>G	XP_005262022.1:p.Asp4261Glu
XM_011530746.1:c.13032T>G	XP_011529048.1:p.Asp4344Glu
XM_011530747.1:c.13032T>G	XP_011529049.1:p.Asp4344Glu
XM_011530748.1:c.13032T>G	XP_011529050.1:p.Asp4344Glu
XM_011530749.1:c.13032T>G	XP_011529051.1:p.Asp4344Glu
XM_011530750.1:c.13032T>G	XP_011529052.1:p.Asp4344Glu
XM_011530751.1:c.13032T>G	XP_011529053.1:p.Asp4344Glu
XM_011530752.1:c.13029T>G	XP_011529054.1:p.Asp4343Glu
XM_011530753.1:c.12987T>G	XP_011529055.1:p.Asp4329Glu
XM_011530754.1:c.12984T>G	XP_011529056.1:p.Asp4328Glu
XM_011530755.1:c.12981T>G	XP_011529057.1:p.Asp4327Glu
XM_011530756.1:c.12933T>G	XP_011529058.1:p.Asp4311Glu
XM_011530757.1:c.12630T>G	XP_011529059.1:p.Asp4210Glu
XM_005261965.4:c.12783T>G	XP_005262022.1:p.Asp4261Glu
XM_011530751.2:c.13032T>G	XP_011529053.1:p.Asp4344Glu
XM_017029191.1:c.13164T>G	XP_016884680.1:p.Asp4388Glu
XM_017029192.1:c.13161T>G	XP_016884681.1:p.Asp4387Glu
XM_017029193.1:c.13143T>G	XP_016884682.1:p.Asp4381Glu
XM_017029194.1:c.13119T>G	XP_016884683.1:p.Asp4373Glu
XM_017029195.1:c.13116T>G	XP_016884684.1:p.Asp4372Glu
XM_017029196.1:c.13113T>G	XP_016884685.1:p.Asp4371Glu
XM_017029197.1:c.13065T>G	XP_016884686.1:p.Asp4355Glu
XM_017029198.2:c.13053T>G	XP_016884687.1:p.Asp4351Glu
XM_017029199.1:c.13053T>G	XP_016884688.1:p.Asp4351Glu
XM_017029200.1:c.13053T>G	XP_016884689.1:p.Asp4351Glu
XM_017029201.1:c.13053T>G	XP_016884690.1:p.Asp4351Glu
XM_017029202.1:c.13053T>G	XP_016884691.1:p.Asp4351Glu
XM_017029203.1:c.13053T>G	XP_016884692.1:p.Asp4351Glu
XM_017029204.1:c.12915T>G	XP_016884693.1:p.Asp4305Glu
XM_017029206.1:c.12762T>G	XP_016884695.1:p.Asp4254Glu
XM_024452322.1:c.13032T>G	XP_024308090.1:p.Asp4344Glu
NM_031407.7:c.12783T>G MANE Select	NP_113584.3:p.Asp4261Glu