Canonical Allele Identifier: CA413145936

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561505T>A (hg19) ; chrX:g.53534544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534544T>A , CM000685.2:g.53534544T>A	GRCh38
NC_000023.10:g.53561505T>A , CM000685.1:g.53561505T>A	GRCh37
NC_000023.9:g.53578230T>A	NCBI36
NG_016261.2:g.157190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12587A>T	ENSP00000515693.1:p.Tyr4196Phe
ENST00000262854.11:c.12803A>T MANE Select	ENSP00000262854.6:p.Tyr4268Phe
ENST00000262854.10:c.12803A>T	ENSP00000262854.6:p.Tyr4268Phe
ENST00000342160.7:c.12803A>T	ENSP00000340648.3:p.Tyr4268Phe
ENST00000426907.5:c.3270A>T
ENST00000488459.1:n.116A>T
ENST00000612484.4:c.12776A>T	ENSP00000479451.1:p.Tyr4259Phe
NM_031407.6:c.12803A>T	NP_113584.3:p.Tyr4268Phe
XM_005261965.2:c.12803A>T	XP_005262022.1:p.Tyr4268Phe
XM_011530746.1:c.13052A>T	XP_011529048.1:p.Tyr4351Phe
XM_011530747.1:c.13052A>T	XP_011529049.1:p.Tyr4351Phe
XM_011530748.1:c.13052A>T	XP_011529050.1:p.Tyr4351Phe
XM_011530749.1:c.13052A>T	XP_011529051.1:p.Tyr4351Phe
XM_011530750.1:c.13052A>T	XP_011529052.1:p.Tyr4351Phe
XM_011530751.1:c.13052A>T	XP_011529053.1:p.Tyr4351Phe
XM_011530752.1:c.13049A>T	XP_011529054.1:p.Tyr4350Phe
XM_011530753.1:c.13007A>T	XP_011529055.1:p.Tyr4336Phe
XM_011530754.1:c.13004A>T	XP_011529056.1:p.Tyr4335Phe
XM_011530755.1:c.13001A>T	XP_011529057.1:p.Tyr4334Phe
XM_011530756.1:c.12953A>T	XP_011529058.1:p.Tyr4318Phe
XM_011530757.1:c.12650A>T	XP_011529059.1:p.Tyr4217Phe
XM_005261965.4:c.12803A>T	XP_005262022.1:p.Tyr4268Phe
XM_011530751.2:c.13052A>T	XP_011529053.1:p.Tyr4351Phe
XM_017029191.1:c.13184A>T	XP_016884680.1:p.Tyr4395Phe
XM_017029192.1:c.13181A>T	XP_016884681.1:p.Tyr4394Phe
XM_017029193.1:c.13163A>T	XP_016884682.1:p.Tyr4388Phe
XM_017029194.1:c.13139A>T	XP_016884683.1:p.Tyr4380Phe
XM_017029195.1:c.13136A>T	XP_016884684.1:p.Tyr4379Phe
XM_017029196.1:c.13133A>T	XP_016884685.1:p.Tyr4378Phe
XM_017029197.1:c.13085A>T	XP_016884686.1:p.Tyr4362Phe
XM_017029198.2:c.13073A>T	XP_016884687.1:p.Tyr4358Phe
XM_017029199.1:c.13073A>T	XP_016884688.1:p.Tyr4358Phe
XM_017029200.1:c.13073A>T	XP_016884689.1:p.Tyr4358Phe
XM_017029201.1:c.13073A>T	XP_016884690.1:p.Tyr4358Phe
XM_017029202.1:c.13073A>T	XP_016884691.1:p.Tyr4358Phe
XM_017029203.1:c.13073A>T	XP_016884692.1:p.Tyr4358Phe
XM_017029204.1:c.12935A>T	XP_016884693.1:p.Tyr4312Phe
XM_017029206.1:c.12782A>T	XP_016884695.1:p.Tyr4261Phe
XM_024452322.1:c.13052A>T	XP_024308090.1:p.Tyr4351Phe
NM_031407.7:c.12803A>T MANE Select	NP_113584.3:p.Tyr4268Phe