Canonical Allele Identifier: CA516420459

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561540G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534579G>A , CM000685.2:g.53534579G>A	GRCh38
NC_000023.10:g.53561540G>A , CM000685.1:g.53561540G>A	GRCh37
NC_000023.9:g.53578265G>A	NCBI36
NG_016261.2:g.157155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12552C>T	ENSP00000515693.1:p.Thr4184=
ENST00000262854.11:c.12768C>T MANE Select	ENSP00000262854.6:p.Thr4256=
ENST00000262854.10:c.12768C>T	ENSP00000262854.6:p.Thr4256=
ENST00000342160.7:c.12768C>T	ENSP00000340648.3:p.Thr4256=
ENST00000426907.5:c.3235C>T
ENST00000488459.1:n.81C>T
ENST00000612484.4:c.12741C>T	ENSP00000479451.1:p.Thr4247=
NM_031407.6:c.12768C>T	NP_113584.3:p.Thr4256=
XM_005261965.2:c.12768C>T	XP_005262022.1:p.Thr4256=
XM_011530746.1:c.13017C>T	XP_011529048.1:p.Thr4339=
XM_011530747.1:c.13017C>T	XP_011529049.1:p.Thr4339=
XM_011530748.1:c.13017C>T	XP_011529050.1:p.Thr4339=
XM_011530749.1:c.13017C>T	XP_011529051.1:p.Thr4339=
XM_011530750.1:c.13017C>T	XP_011529052.1:p.Thr4339=
XM_011530751.1:c.13017C>T	XP_011529053.1:p.Thr4339=
XM_011530752.1:c.13014C>T	XP_011529054.1:p.Thr4338=
XM_011530753.1:c.12972C>T	XP_011529055.1:p.Thr4324=
XM_011530754.1:c.12969C>T	XP_011529056.1:p.Thr4323=
XM_011530755.1:c.12966C>T	XP_011529057.1:p.Thr4322=
XM_011530756.1:c.12918C>T	XP_011529058.1:p.Thr4306=
XM_011530757.1:c.12615C>T	XP_011529059.1:p.Thr4205=
XM_005261965.4:c.12768C>T	XP_005262022.1:p.Thr4256=
XM_011530751.2:c.13017C>T	XP_011529053.1:p.Thr4339=
XM_017029191.1:c.13149C>T	XP_016884680.1:p.Thr4383=
XM_017029192.1:c.13146C>T	XP_016884681.1:p.Thr4382=
XM_017029193.1:c.13128C>T	XP_016884682.1:p.Thr4376=
XM_017029194.1:c.13104C>T	XP_016884683.1:p.Thr4368=
XM_017029195.1:c.13101C>T	XP_016884684.1:p.Thr4367=
XM_017029196.1:c.13098C>T	XP_016884685.1:p.Thr4366=
XM_017029197.1:c.13050C>T	XP_016884686.1:p.Thr4350=
XM_017029198.2:c.13038C>T	XP_016884687.1:p.Thr4346=
XM_017029199.1:c.13038C>T	XP_016884688.1:p.Thr4346=
XM_017029200.1:c.13038C>T	XP_016884689.1:p.Thr4346=
XM_017029201.1:c.13038C>T	XP_016884690.1:p.Thr4346=
XM_017029202.1:c.13038C>T	XP_016884691.1:p.Thr4346=
XM_017029203.1:c.13038C>T	XP_016884692.1:p.Thr4346=
XM_017029204.1:c.12900C>T	XP_016884693.1:p.Thr4300=
XM_017029206.1:c.12747C>T	XP_016884695.1:p.Thr4249=
XM_024452322.1:c.13017C>T	XP_024308090.1:p.Thr4339=
NM_031407.7:c.12768C>T MANE Select	NP_113584.3:p.Thr4256=