Canonical Allele Identifier: CA413145146

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561123A>C (hg19) ; chrX:g.53534162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534162A>C , CM000685.2:g.53534162A>C	GRCh38
NC_000023.10:g.53561123A>C , CM000685.1:g.53561123A>C	GRCh37
NC_000023.9:g.53577848A>C	NCBI36
NG_016261.2:g.157572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12651T>G	ENSP00000515693.1:p.Asp4217Glu
ENST00000262854.11:c.12867T>G MANE Select	ENSP00000262854.6:p.Asp4289Glu
ENST00000262854.10:c.12867T>G	ENSP00000262854.6:p.Asp4289Glu
ENST00000342160.7:c.12867T>G	ENSP00000340648.3:p.Asp4289Glu
ENST00000426907.5:c.3334T>G
ENST00000488459.1:n.180T>G
ENST00000612484.4:c.12840T>G	ENSP00000479451.1:p.Asp4280Glu
NM_031407.6:c.12867T>G	NP_113584.3:p.Asp4289Glu
XM_005261965.2:c.12867T>G	XP_005262022.1:p.Asp4289Glu
XM_011530746.1:c.13116T>G	XP_011529048.1:p.Asp4372Glu
XM_011530747.1:c.13116T>G	XP_011529049.1:p.Asp4372Glu
XM_011530748.1:c.13116T>G	XP_011529050.1:p.Asp4372Glu
XM_011530749.1:c.13116T>G	XP_011529051.1:p.Asp4372Glu
XM_011530750.1:c.13116T>G	XP_011529052.1:p.Asp4372Glu
XM_011530751.1:c.13116T>G	XP_011529053.1:p.Asp4372Glu
XM_011530752.1:c.13113T>G	XP_011529054.1:p.Asp4371Glu
XM_011530753.1:c.13071T>G	XP_011529055.1:p.Asp4357Glu
XM_011530754.1:c.13068T>G	XP_011529056.1:p.Asp4356Glu
XM_011530755.1:c.13065T>G	XP_011529057.1:p.Asp4355Glu
XM_011530756.1:c.13017T>G	XP_011529058.1:p.Asp4339Glu
XM_011530757.1:c.12714T>G	XP_011529059.1:p.Asp4238Glu
XM_005261965.4:c.12867T>G	XP_005262022.1:p.Asp4289Glu
XM_011530751.2:c.13116T>G	XP_011529053.1:p.Asp4372Glu
XM_017029191.1:c.13248T>G	XP_016884680.1:p.Asp4416Glu
XM_017029192.1:c.13245T>G	XP_016884681.1:p.Asp4415Glu
XM_017029193.1:c.13227T>G	XP_016884682.1:p.Asp4409Glu
XM_017029194.1:c.13203T>G	XP_016884683.1:p.Asp4401Glu
XM_017029195.1:c.13200T>G	XP_016884684.1:p.Asp4400Glu
XM_017029196.1:c.13197T>G	XP_016884685.1:p.Asp4399Glu
XM_017029197.1:c.13149T>G	XP_016884686.1:p.Asp4383Glu
XM_017029198.2:c.13137T>G	XP_016884687.1:p.Asp4379Glu
XM_017029199.1:c.13137T>G	XP_016884688.1:p.Asp4379Glu
XM_017029200.1:c.13137T>G	XP_016884689.1:p.Asp4379Glu
XM_017029201.1:c.13137T>G	XP_016884690.1:p.Asp4379Glu
XM_017029202.1:c.13137T>G	XP_016884691.1:p.Asp4379Glu
XM_017029203.1:c.13137T>G	XP_016884692.1:p.Asp4379Glu
XM_017029204.1:c.12999T>G	XP_016884693.1:p.Asp4333Glu
XM_017029206.1:c.12846T>G	XP_016884695.1:p.Asp4282Glu
XM_024452322.1:c.13116T>G	XP_024308090.1:p.Asp4372Glu
NM_031407.7:c.12867T>G MANE Select	NP_113584.3:p.Asp4289Glu