Canonical Allele Identifier: CA413145996

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561509C>A (hg19) ; chrX:g.53534548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534548C>A , CM000685.2:g.53534548C>A	GRCh38
NC_000023.10:g.53561509C>A , CM000685.1:g.53561509C>A	GRCh37
NC_000023.9:g.53578234C>A	NCBI36
NG_016261.2:g.157186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12583G>T	ENSP00000515693.1:p.Glu4195Ter
ENST00000262854.11:c.12799G>T MANE Select	ENSP00000262854.6:p.Glu4267Ter
ENST00000262854.10:c.12799G>T	ENSP00000262854.6:p.Glu4267Ter
ENST00000342160.7:c.12799G>T	ENSP00000340648.3:p.Glu4267Ter
ENST00000426907.5:c.3266G>T
ENST00000488459.1:n.112G>T
ENST00000612484.4:c.12772G>T	ENSP00000479451.1:p.Glu4258Ter
NM_031407.6:c.12799G>T	NP_113584.3:p.Glu4267Ter
XM_005261965.2:c.12799G>T	XP_005262022.1:p.Glu4267Ter
XM_011530746.1:c.13048G>T	XP_011529048.1:p.Glu4350Ter
XM_011530747.1:c.13048G>T	XP_011529049.1:p.Glu4350Ter
XM_011530748.1:c.13048G>T	XP_011529050.1:p.Glu4350Ter
XM_011530749.1:c.13048G>T	XP_011529051.1:p.Glu4350Ter
XM_011530750.1:c.13048G>T	XP_011529052.1:p.Glu4350Ter
XM_011530751.1:c.13048G>T	XP_011529053.1:p.Glu4350Ter
XM_011530752.1:c.13045G>T	XP_011529054.1:p.Glu4349Ter
XM_011530753.1:c.13003G>T	XP_011529055.1:p.Glu4335Ter
XM_011530754.1:c.13000G>T	XP_011529056.1:p.Glu4334Ter
XM_011530755.1:c.12997G>T	XP_011529057.1:p.Glu4333Ter
XM_011530756.1:c.12949G>T	XP_011529058.1:p.Glu4317Ter
XM_011530757.1:c.12646G>T	XP_011529059.1:p.Glu4216Ter
XM_005261965.4:c.12799G>T	XP_005262022.1:p.Glu4267Ter
XM_011530751.2:c.13048G>T	XP_011529053.1:p.Glu4350Ter
XM_017029191.1:c.13180G>T	XP_016884680.1:p.Glu4394Ter
XM_017029192.1:c.13177G>T	XP_016884681.1:p.Glu4393Ter
XM_017029193.1:c.13159G>T	XP_016884682.1:p.Glu4387Ter
XM_017029194.1:c.13135G>T	XP_016884683.1:p.Glu4379Ter
XM_017029195.1:c.13132G>T	XP_016884684.1:p.Glu4378Ter
XM_017029196.1:c.13129G>T	XP_016884685.1:p.Glu4377Ter
XM_017029197.1:c.13081G>T	XP_016884686.1:p.Glu4361Ter
XM_017029198.2:c.13069G>T	XP_016884687.1:p.Glu4357Ter
XM_017029199.1:c.13069G>T	XP_016884688.1:p.Glu4357Ter
XM_017029200.1:c.13069G>T	XP_016884689.1:p.Glu4357Ter
XM_017029201.1:c.13069G>T	XP_016884690.1:p.Glu4357Ter
XM_017029202.1:c.13069G>T	XP_016884691.1:p.Glu4357Ter
XM_017029203.1:c.13069G>T	XP_016884692.1:p.Glu4357Ter
XM_017029204.1:c.12931G>T	XP_016884693.1:p.Glu4311Ter
XM_017029206.1:c.12778G>T	XP_016884695.1:p.Glu4260Ter
XM_024452322.1:c.13048G>T	XP_024308090.1:p.Glu4350Ter
NM_031407.7:c.12799G>T MANE Select	NP_113584.3:p.Glu4267Ter