Canonical Allele Identifier: CA413143685

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560995G>A (hg19) ; chrX:g.53534034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534034G>A , CM000685.2:g.53534034G>A	GRCh38
NC_000023.10:g.53560995G>A , CM000685.1:g.53560995G>A	GRCh37
NC_000023.9:g.53577720G>A	NCBI36
NG_016261.2:g.157700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12779C>T	ENSP00000515693.1:p.Thr4260Ile
ENST00000262854.11:c.12995C>T MANE Select	ENSP00000262854.6:p.Thr4332Ile
ENST00000262854.10:c.12995C>T	ENSP00000262854.6:p.Thr4332Ile
ENST00000342160.7:c.12995C>T	ENSP00000340648.3:p.Thr4332Ile
ENST00000426907.5:c.3462C>T
ENST00000488459.1:n.308C>T
ENST00000612484.4:c.12968C>T	ENSP00000479451.1:p.Thr4323Ile
NM_031407.6:c.12995C>T	NP_113584.3:p.Thr4332Ile
XM_005261965.2:c.12995C>T	XP_005262022.1:p.Thr4332Ile
XM_011530746.1:c.13244C>T	XP_011529048.1:p.Thr4415Ile
XM_011530747.1:c.13244C>T	XP_011529049.1:p.Thr4415Ile
XM_011530748.1:c.13244C>T	XP_011529050.1:p.Thr4415Ile
XM_011530749.1:c.13244C>T	XP_011529051.1:p.Thr4415Ile
XM_011530750.1:c.13244C>T	XP_011529052.1:p.Thr4415Ile
XM_011530751.1:c.13244C>T	XP_011529053.1:p.Thr4415Ile
XM_011530752.1:c.13241C>T	XP_011529054.1:p.Thr4414Ile
XM_011530753.1:c.13199C>T	XP_011529055.1:p.Thr4400Ile
XM_011530754.1:c.13196C>T	XP_011529056.1:p.Thr4399Ile
XM_011530755.1:c.13193C>T	XP_011529057.1:p.Thr4398Ile
XM_011530756.1:c.13145C>T	XP_011529058.1:p.Thr4382Ile
XM_011530757.1:c.12842C>T	XP_011529059.1:p.Thr4281Ile
XM_005261965.4:c.12995C>T	XP_005262022.1:p.Thr4332Ile
XM_011530751.2:c.13244C>T	XP_011529053.1:p.Thr4415Ile
XM_017029191.1:c.13376C>T	XP_016884680.1:p.Thr4459Ile
XM_017029192.1:c.13373C>T	XP_016884681.1:p.Thr4458Ile
XM_017029193.1:c.13355C>T	XP_016884682.1:p.Thr4452Ile
XM_017029194.1:c.13331C>T	XP_016884683.1:p.Thr4444Ile
XM_017029195.1:c.13328C>T	XP_016884684.1:p.Thr4443Ile
XM_017029196.1:c.13325C>T	XP_016884685.1:p.Thr4442Ile
XM_017029197.1:c.13277C>T	XP_016884686.1:p.Thr4426Ile
XM_017029198.2:c.13265C>T	XP_016884687.1:p.Thr4422Ile
XM_017029199.1:c.13265C>T	XP_016884688.1:p.Thr4422Ile
XM_017029200.1:c.13265C>T	XP_016884689.1:p.Thr4422Ile
XM_017029201.1:c.13265C>T	XP_016884690.1:p.Thr4422Ile
XM_017029202.1:c.13265C>T	XP_016884691.1:p.Thr4422Ile
XM_017029203.1:c.13265C>T	XP_016884692.1:p.Thr4422Ile
XM_017029204.1:c.13127C>T	XP_016884693.1:p.Thr4376Ile
XM_017029206.1:c.12974C>T	XP_016884695.1:p.Thr4325Ile
XM_024452322.1:c.13244C>T	XP_024308090.1:p.Thr4415Ile
NM_031407.7:c.12995C>T MANE Select	NP_113584.3:p.Thr4332Ile