Canonical Allele Identifier: CA413146105

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561518A>T (hg19) ; chrX:g.53534557A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534557A>T , CM000685.2:g.53534557A>T	GRCh38
NC_000023.10:g.53561518A>T , CM000685.1:g.53561518A>T	GRCh37
NC_000023.9:g.53578243A>T	NCBI36
NG_016261.2:g.157177T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12574T>A	ENSP00000515693.1:p.Ser4192Thr
ENST00000262854.11:c.12790T>A MANE Select	ENSP00000262854.6:p.Ser4264Thr
ENST00000262854.10:c.12790T>A	ENSP00000262854.6:p.Ser4264Thr
ENST00000342160.7:c.12790T>A	ENSP00000340648.3:p.Ser4264Thr
ENST00000426907.5:c.3257T>A
ENST00000488459.1:n.103T>A
ENST00000612484.4:c.12763T>A	ENSP00000479451.1:p.Ser4255Thr
NM_031407.6:c.12790T>A	NP_113584.3:p.Ser4264Thr
XM_005261965.2:c.12790T>A	XP_005262022.1:p.Ser4264Thr
XM_011530746.1:c.13039T>A	XP_011529048.1:p.Ser4347Thr
XM_011530747.1:c.13039T>A	XP_011529049.1:p.Ser4347Thr
XM_011530748.1:c.13039T>A	XP_011529050.1:p.Ser4347Thr
XM_011530749.1:c.13039T>A	XP_011529051.1:p.Ser4347Thr
XM_011530750.1:c.13039T>A	XP_011529052.1:p.Ser4347Thr
XM_011530751.1:c.13039T>A	XP_011529053.1:p.Ser4347Thr
XM_011530752.1:c.13036T>A	XP_011529054.1:p.Ser4346Thr
XM_011530753.1:c.12994T>A	XP_011529055.1:p.Ser4332Thr
XM_011530754.1:c.12991T>A	XP_011529056.1:p.Ser4331Thr
XM_011530755.1:c.12988T>A	XP_011529057.1:p.Ser4330Thr
XM_011530756.1:c.12940T>A	XP_011529058.1:p.Ser4314Thr
XM_011530757.1:c.12637T>A	XP_011529059.1:p.Ser4213Thr
XM_005261965.4:c.12790T>A	XP_005262022.1:p.Ser4264Thr
XM_011530751.2:c.13039T>A	XP_011529053.1:p.Ser4347Thr
XM_017029191.1:c.13171T>A	XP_016884680.1:p.Ser4391Thr
XM_017029192.1:c.13168T>A	XP_016884681.1:p.Ser4390Thr
XM_017029193.1:c.13150T>A	XP_016884682.1:p.Ser4384Thr
XM_017029194.1:c.13126T>A	XP_016884683.1:p.Ser4376Thr
XM_017029195.1:c.13123T>A	XP_016884684.1:p.Ser4375Thr
XM_017029196.1:c.13120T>A	XP_016884685.1:p.Ser4374Thr
XM_017029197.1:c.13072T>A	XP_016884686.1:p.Ser4358Thr
XM_017029198.2:c.13060T>A	XP_016884687.1:p.Ser4354Thr
XM_017029199.1:c.13060T>A	XP_016884688.1:p.Ser4354Thr
XM_017029200.1:c.13060T>A	XP_016884689.1:p.Ser4354Thr
XM_017029201.1:c.13060T>A	XP_016884690.1:p.Ser4354Thr
XM_017029202.1:c.13060T>A	XP_016884691.1:p.Ser4354Thr
XM_017029203.1:c.13060T>A	XP_016884692.1:p.Ser4354Thr
XM_017029204.1:c.12922T>A	XP_016884693.1:p.Ser4308Thr
XM_017029206.1:c.12769T>A	XP_016884695.1:p.Ser4257Thr
XM_024452322.1:c.13039T>A	XP_024308090.1:p.Ser4347Thr
NM_031407.7:c.12790T>A MANE Select	NP_113584.3:p.Ser4264Thr