Canonical Allele Identifier: CA516418317

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560994T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534033T>A , CM000685.2:g.53534033T>A	GRCh38
NC_000023.10:g.53560994T>A , CM000685.1:g.53560994T>A	GRCh37
NC_000023.9:g.53577719T>A	NCBI36
NG_016261.2:g.157701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12780A>T	ENSP00000515693.1:p.Thr4260=
ENST00000262854.11:c.12996A>T MANE Select	ENSP00000262854.6:p.Thr4332=
ENST00000262854.10:c.12996A>T	ENSP00000262854.6:p.Thr4332=
ENST00000342160.7:c.12996A>T	ENSP00000340648.3:p.Thr4332=
ENST00000426907.5:c.3463A>T
ENST00000488459.1:n.309A>T
ENST00000612484.4:c.12969A>T	ENSP00000479451.1:p.Thr4323=
NM_031407.6:c.12996A>T	NP_113584.3:p.Thr4332=
XM_005261965.2:c.12996A>T	XP_005262022.1:p.Thr4332=
XM_011530746.1:c.13245A>T	XP_011529048.1:p.Thr4415=
XM_011530747.1:c.13245A>T	XP_011529049.1:p.Thr4415=
XM_011530748.1:c.13245A>T	XP_011529050.1:p.Thr4415=
XM_011530749.1:c.13245A>T	XP_011529051.1:p.Thr4415=
XM_011530750.1:c.13245A>T	XP_011529052.1:p.Thr4415=
XM_011530751.1:c.13245A>T	XP_011529053.1:p.Thr4415=
XM_011530752.1:c.13242A>T	XP_011529054.1:p.Thr4414=
XM_011530753.1:c.13200A>T	XP_011529055.1:p.Thr4400=
XM_011530754.1:c.13197A>T	XP_011529056.1:p.Thr4399=
XM_011530755.1:c.13194A>T	XP_011529057.1:p.Thr4398=
XM_011530756.1:c.13146A>T	XP_011529058.1:p.Thr4382=
XM_011530757.1:c.12843A>T	XP_011529059.1:p.Thr4281=
XM_005261965.4:c.12996A>T	XP_005262022.1:p.Thr4332=
XM_011530751.2:c.13245A>T	XP_011529053.1:p.Thr4415=
XM_017029191.1:c.13377A>T	XP_016884680.1:p.Thr4459=
XM_017029192.1:c.13374A>T	XP_016884681.1:p.Thr4458=
XM_017029193.1:c.13356A>T	XP_016884682.1:p.Thr4452=
XM_017029194.1:c.13332A>T	XP_016884683.1:p.Thr4444=
XM_017029195.1:c.13329A>T	XP_016884684.1:p.Thr4443=
XM_017029196.1:c.13326A>T	XP_016884685.1:p.Thr4442=
XM_017029197.1:c.13278A>T	XP_016884686.1:p.Thr4426=
XM_017029198.2:c.13266A>T	XP_016884687.1:p.Thr4422=
XM_017029199.1:c.13266A>T	XP_016884688.1:p.Thr4422=
XM_017029200.1:c.13266A>T	XP_016884689.1:p.Thr4422=
XM_017029201.1:c.13266A>T	XP_016884690.1:p.Thr4422=
XM_017029202.1:c.13266A>T	XP_016884691.1:p.Thr4422=
XM_017029203.1:c.13266A>T	XP_016884692.1:p.Thr4422=
XM_017029204.1:c.13128A>T	XP_016884693.1:p.Thr4376=
XM_017029206.1:c.12975A>T	XP_016884695.1:p.Thr4325=
XM_024452322.1:c.13245A>T	XP_024308090.1:p.Thr4415=
NM_031407.7:c.12996A>T MANE Select	NP_113584.3:p.Thr4332=