Canonical Allele Identifier: CA413156099

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564643T>G (hg19) ; chrX:g.53537682T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537682T>G , CM000685.2:g.53537682T>G	GRCh38
NC_000023.10:g.53564643T>G , CM000685.1:g.53564643T>G	GRCh37
NC_000023.9:g.53581368T>G	NCBI36
NG_016261.2:g.154052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11795A>C	ENSP00000515693.1:p.Glu3932Ala
ENST00000262854.11:c.12011A>C MANE Select	ENSP00000262854.6:p.Glu4004Ala
ENST00000262854.10:c.12011A>C	ENSP00000262854.6:p.Glu4004Ala
ENST00000342160.7:c.12011A>C	ENSP00000340648.3:p.Glu4004Ala
ENST00000426907.5:c.2478A>C
ENST00000480438.1:n.146A>C
ENST00000612484.4:c.11984A>C	ENSP00000479451.1:p.Glu3995Ala
NM_031407.6:c.12011A>C	NP_113584.3:p.Glu4004Ala
XM_005261965.2:c.12011A>C	XP_005262022.1:p.Glu4004Ala
XM_011530746.1:c.12260A>C	XP_011529048.1:p.Glu4087Ala
XM_011530747.1:c.12260A>C	XP_011529049.1:p.Glu4087Ala
XM_011530748.1:c.12260A>C	XP_011529050.1:p.Glu4087Ala
XM_011530749.1:c.12260A>C	XP_011529051.1:p.Glu4087Ala
XM_011530750.1:c.12260A>C	XP_011529052.1:p.Glu4087Ala
XM_011530751.1:c.12260A>C	XP_011529053.1:p.Glu4087Ala
XM_011530752.1:c.12257A>C	XP_011529054.1:p.Glu4086Ala
XM_011530753.1:c.12215A>C	XP_011529055.1:p.Glu4072Ala
XM_011530754.1:c.12212A>C	XP_011529056.1:p.Glu4071Ala
XM_011530755.1:c.12209A>C	XP_011529057.1:p.Glu4070Ala
XM_011530756.1:c.12161A>C	XP_011529058.1:p.Glu4054Ala
XM_011530757.1:c.11858A>C	XP_011529059.1:p.Glu3953Ala
XM_005261965.4:c.12011A>C	XP_005262022.1:p.Glu4004Ala
XM_011530751.2:c.12260A>C	XP_011529053.1:p.Glu4087Ala
XM_017029191.1:c.12392A>C	XP_016884680.1:p.Glu4131Ala
XM_017029192.1:c.12389A>C	XP_016884681.1:p.Glu4130Ala
XM_017029193.1:c.12371A>C	XP_016884682.1:p.Glu4124Ala
XM_017029194.1:c.12347A>C	XP_016884683.1:p.Glu4116Ala
XM_017029195.1:c.12344A>C	XP_016884684.1:p.Glu4115Ala
XM_017029196.1:c.12341A>C	XP_016884685.1:p.Glu4114Ala
XM_017029197.1:c.12293A>C	XP_016884686.1:p.Glu4098Ala
XM_017029198.2:c.12281A>C	XP_016884687.1:p.Glu4094Ala
XM_017029199.1:c.12281A>C	XP_016884688.1:p.Glu4094Ala
XM_017029200.1:c.12281A>C	XP_016884689.1:p.Glu4094Ala
XM_017029201.1:c.12281A>C	XP_016884690.1:p.Glu4094Ala
XM_017029202.1:c.12281A>C	XP_016884691.1:p.Glu4094Ala
XM_017029203.1:c.12281A>C	XP_016884692.1:p.Glu4094Ala
XM_017029204.1:c.12143A>C	XP_016884693.1:p.Glu4048Ala
XM_017029206.1:c.11990A>C	XP_016884695.1:p.Glu3997Ala
XM_024452322.1:c.12260A>C	XP_024308090.1:p.Glu4087Ala
NM_031407.7:c.12011A>C MANE Select	NP_113584.3:p.Glu4004Ala