Canonical Allele Identifier: CA413145956

Gene: HUWE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12586T>C	ENSP00000515693.1:p.Tyr4196His
ENST00000262854.11:c.12802T>C MANE Select	ENSP00000262854.6:p.Tyr4268His
ENST00000262854.10:c.12802T>C	ENSP00000262854.6:p.Tyr4268His
ENST00000342160.7:c.12802T>C	ENSP00000340648.3:p.Tyr4268His
ENST00000426907.5:c.3269T>C
ENST00000488459.1:n.115T>C
ENST00000612484.4:c.12775T>C	ENSP00000479451.1:p.Tyr4259His
NM_031407.6:c.12802T>C	NP_113584.3:p.Tyr4268His
XM_005261965.2:c.12802T>C	XP_005262022.1:p.Tyr4268His
XM_011530746.1:c.13051T>C	XP_011529048.1:p.Tyr4351His
XM_011530747.1:c.13051T>C	XP_011529049.1:p.Tyr4351His
XM_011530748.1:c.13051T>C	XP_011529050.1:p.Tyr4351His
XM_011530749.1:c.13051T>C	XP_011529051.1:p.Tyr4351His
XM_011530750.1:c.13051T>C	XP_011529052.1:p.Tyr4351His
XM_011530751.1:c.13051T>C	XP_011529053.1:p.Tyr4351His
XM_011530752.1:c.13048T>C	XP_011529054.1:p.Tyr4350His
XM_011530753.1:c.13006T>C	XP_011529055.1:p.Tyr4336His
XM_011530754.1:c.13003T>C	XP_011529056.1:p.Tyr4335His
XM_011530755.1:c.13000T>C	XP_011529057.1:p.Tyr4334His
XM_011530756.1:c.12952T>C	XP_011529058.1:p.Tyr4318His
XM_011530757.1:c.12649T>C	XP_011529059.1:p.Tyr4217His
XM_005261965.4:c.12802T>C	XP_005262022.1:p.Tyr4268His
XM_011530751.2:c.13051T>C	XP_011529053.1:p.Tyr4351His
XM_017029191.1:c.13183T>C	XP_016884680.1:p.Tyr4395His
XM_017029192.1:c.13180T>C	XP_016884681.1:p.Tyr4394His
XM_017029193.1:c.13162T>C	XP_016884682.1:p.Tyr4388His
XM_017029194.1:c.13138T>C	XP_016884683.1:p.Tyr4380His
XM_017029195.1:c.13135T>C	XP_016884684.1:p.Tyr4379His
XM_017029196.1:c.13132T>C	XP_016884685.1:p.Tyr4378His
XM_017029197.1:c.13084T>C	XP_016884686.1:p.Tyr4362His
XM_017029198.2:c.13072T>C	XP_016884687.1:p.Tyr4358His
XM_017029199.1:c.13072T>C	XP_016884688.1:p.Tyr4358His
XM_017029200.1:c.13072T>C	XP_016884689.1:p.Tyr4358His
XM_017029201.1:c.13072T>C	XP_016884690.1:p.Tyr4358His
XM_017029202.1:c.13072T>C	XP_016884691.1:p.Tyr4358His
XM_017029203.1:c.13072T>C	XP_016884692.1:p.Tyr4358His
XM_017029204.1:c.12934T>C	XP_016884693.1:p.Tyr4312His
XM_017029206.1:c.12781T>C	XP_016884695.1:p.Tyr4261His
XM_024452322.1:c.13051T>C	XP_024308090.1:p.Tyr4351His
NM_031407.7:c.12802T>C MANE Select	NP_113584.3:p.Tyr4268His