Canonical Allele Identifier: CA516420330

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561510A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534549A>C , CM000685.2:g.53534549A>C	GRCh38
NC_000023.10:g.53561510A>C , CM000685.1:g.53561510A>C	GRCh37
NC_000023.9:g.53578235A>C	NCBI36
NG_016261.2:g.157185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12582T>G	ENSP00000515693.1:p.Thr4194=
ENST00000262854.11:c.12798T>G MANE Select	ENSP00000262854.6:p.Thr4266=
ENST00000262854.10:c.12798T>G	ENSP00000262854.6:p.Thr4266=
ENST00000342160.7:c.12798T>G	ENSP00000340648.3:p.Thr4266=
ENST00000426907.5:c.3265T>G
ENST00000488459.1:n.111T>G
ENST00000612484.4:c.12771T>G	ENSP00000479451.1:p.Thr4257=
NM_031407.6:c.12798T>G	NP_113584.3:p.Thr4266=
XM_005261965.2:c.12798T>G	XP_005262022.1:p.Thr4266=
XM_011530746.1:c.13047T>G	XP_011529048.1:p.Thr4349=
XM_011530747.1:c.13047T>G	XP_011529049.1:p.Thr4349=
XM_011530748.1:c.13047T>G	XP_011529050.1:p.Thr4349=
XM_011530749.1:c.13047T>G	XP_011529051.1:p.Thr4349=
XM_011530750.1:c.13047T>G	XP_011529052.1:p.Thr4349=
XM_011530751.1:c.13047T>G	XP_011529053.1:p.Thr4349=
XM_011530752.1:c.13044T>G	XP_011529054.1:p.Thr4348=
XM_011530753.1:c.13002T>G	XP_011529055.1:p.Thr4334=
XM_011530754.1:c.12999T>G	XP_011529056.1:p.Thr4333=
XM_011530755.1:c.12996T>G	XP_011529057.1:p.Thr4332=
XM_011530756.1:c.12948T>G	XP_011529058.1:p.Thr4316=
XM_011530757.1:c.12645T>G	XP_011529059.1:p.Thr4215=
XM_005261965.4:c.12798T>G	XP_005262022.1:p.Thr4266=
XM_011530751.2:c.13047T>G	XP_011529053.1:p.Thr4349=
XM_017029191.1:c.13179T>G	XP_016884680.1:p.Thr4393=
XM_017029192.1:c.13176T>G	XP_016884681.1:p.Thr4392=
XM_017029193.1:c.13158T>G	XP_016884682.1:p.Thr4386=
XM_017029194.1:c.13134T>G	XP_016884683.1:p.Thr4378=
XM_017029195.1:c.13131T>G	XP_016884684.1:p.Thr4377=
XM_017029196.1:c.13128T>G	XP_016884685.1:p.Thr4376=
XM_017029197.1:c.13080T>G	XP_016884686.1:p.Thr4360=
XM_017029198.2:c.13068T>G	XP_016884687.1:p.Thr4356=
XM_017029199.1:c.13068T>G	XP_016884688.1:p.Thr4356=
XM_017029200.1:c.13068T>G	XP_016884689.1:p.Thr4356=
XM_017029201.1:c.13068T>G	XP_016884690.1:p.Thr4356=
XM_017029202.1:c.13068T>G	XP_016884691.1:p.Thr4356=
XM_017029203.1:c.13068T>G	XP_016884692.1:p.Thr4356=
XM_017029204.1:c.12930T>G	XP_016884693.1:p.Thr4310=
XM_017029206.1:c.12777T>G	XP_016884695.1:p.Thr4259=
XM_024452322.1:c.13047T>G	XP_024308090.1:p.Thr4349=
NM_031407.7:c.12798T>G MANE Select	NP_113584.3:p.Thr4266=