Canonical Allele Identifier: CA413145959

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561506A>C (hg19) ; chrX:g.53534545A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534545A>C , CM000685.2:g.53534545A>C	GRCh38
NC_000023.10:g.53561506A>C , CM000685.1:g.53561506A>C	GRCh37
NC_000023.9:g.53578231A>C	NCBI36
NG_016261.2:g.157189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12586T>G	ENSP00000515693.1:p.Tyr4196Asp
ENST00000262854.11:c.12802T>G MANE Select	ENSP00000262854.6:p.Tyr4268Asp
ENST00000262854.10:c.12802T>G	ENSP00000262854.6:p.Tyr4268Asp
ENST00000342160.7:c.12802T>G	ENSP00000340648.3:p.Tyr4268Asp
ENST00000426907.5:c.3269T>G
ENST00000488459.1:n.115T>G
ENST00000612484.4:c.12775T>G	ENSP00000479451.1:p.Tyr4259Asp
NM_031407.6:c.12802T>G	NP_113584.3:p.Tyr4268Asp
XM_005261965.2:c.12802T>G	XP_005262022.1:p.Tyr4268Asp
XM_011530746.1:c.13051T>G	XP_011529048.1:p.Tyr4351Asp
XM_011530747.1:c.13051T>G	XP_011529049.1:p.Tyr4351Asp
XM_011530748.1:c.13051T>G	XP_011529050.1:p.Tyr4351Asp
XM_011530749.1:c.13051T>G	XP_011529051.1:p.Tyr4351Asp
XM_011530750.1:c.13051T>G	XP_011529052.1:p.Tyr4351Asp
XM_011530751.1:c.13051T>G	XP_011529053.1:p.Tyr4351Asp
XM_011530752.1:c.13048T>G	XP_011529054.1:p.Tyr4350Asp
XM_011530753.1:c.13006T>G	XP_011529055.1:p.Tyr4336Asp
XM_011530754.1:c.13003T>G	XP_011529056.1:p.Tyr4335Asp
XM_011530755.1:c.13000T>G	XP_011529057.1:p.Tyr4334Asp
XM_011530756.1:c.12952T>G	XP_011529058.1:p.Tyr4318Asp
XM_011530757.1:c.12649T>G	XP_011529059.1:p.Tyr4217Asp
XM_005261965.4:c.12802T>G	XP_005262022.1:p.Tyr4268Asp
XM_011530751.2:c.13051T>G	XP_011529053.1:p.Tyr4351Asp
XM_017029191.1:c.13183T>G	XP_016884680.1:p.Tyr4395Asp
XM_017029192.1:c.13180T>G	XP_016884681.1:p.Tyr4394Asp
XM_017029193.1:c.13162T>G	XP_016884682.1:p.Tyr4388Asp
XM_017029194.1:c.13138T>G	XP_016884683.1:p.Tyr4380Asp
XM_017029195.1:c.13135T>G	XP_016884684.1:p.Tyr4379Asp
XM_017029196.1:c.13132T>G	XP_016884685.1:p.Tyr4378Asp
XM_017029197.1:c.13084T>G	XP_016884686.1:p.Tyr4362Asp
XM_017029198.2:c.13072T>G	XP_016884687.1:p.Tyr4358Asp
XM_017029199.1:c.13072T>G	XP_016884688.1:p.Tyr4358Asp
XM_017029200.1:c.13072T>G	XP_016884689.1:p.Tyr4358Asp
XM_017029201.1:c.13072T>G	XP_016884690.1:p.Tyr4358Asp
XM_017029202.1:c.13072T>G	XP_016884691.1:p.Tyr4358Asp
XM_017029203.1:c.13072T>G	XP_016884692.1:p.Tyr4358Asp
XM_017029204.1:c.12934T>G	XP_016884693.1:p.Tyr4312Asp
XM_017029206.1:c.12781T>G	XP_016884695.1:p.Tyr4261Asp
XM_024452322.1:c.13051T>G	XP_024308090.1:p.Tyr4351Asp
NM_031407.7:c.12802T>G MANE Select	NP_113584.3:p.Tyr4268Asp