Canonical Allele Identifier: CA329183503

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 1703157
• ClinVar RCV Id: RCV002280280
• dbSNP Id: rs920562700
• MyVariant Identifiers: chrX:g.53561526T>G (hg19) ; chrX:g.53534565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534565T>G , CM000685.2:g.53534565T>G	GRCh38
NC_000023.10:g.53561526T>G , CM000685.1:g.53561526T>G	GRCh37
NC_000023.9:g.53578251T>G	NCBI36
NG_016261.2:g.157169A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12566A>C	ENSP00000515693.1:p.Asp4189Ala
ENST00000262854.11:c.12782A>C MANE Select	ENSP00000262854.6:p.Asp4261Ala
ENST00000262854.10:c.12782A>C	ENSP00000262854.6:p.Asp4261Ala
ENST00000342160.7:c.12782A>C	ENSP00000340648.3:p.Asp4261Ala
ENST00000426907.5:c.3249A>C
ENST00000488459.1:n.95A>C
ENST00000612484.4:c.12755A>C	ENSP00000479451.1:p.Asp4252Ala
NM_031407.6:c.12782A>C	NP_113584.3:p.Asp4261Ala
XM_005261965.2:c.12782A>C	XP_005262022.1:p.Asp4261Ala
XM_011530746.1:c.13031A>C	XP_011529048.1:p.Asp4344Ala
XM_011530747.1:c.13031A>C	XP_011529049.1:p.Asp4344Ala
XM_011530748.1:c.13031A>C	XP_011529050.1:p.Asp4344Ala
XM_011530749.1:c.13031A>C	XP_011529051.1:p.Asp4344Ala
XM_011530750.1:c.13031A>C	XP_011529052.1:p.Asp4344Ala
XM_011530751.1:c.13031A>C	XP_011529053.1:p.Asp4344Ala
XM_011530752.1:c.13028A>C	XP_011529054.1:p.Asp4343Ala
XM_011530753.1:c.12986A>C	XP_011529055.1:p.Asp4329Ala
XM_011530754.1:c.12983A>C	XP_011529056.1:p.Asp4328Ala
XM_011530755.1:c.12980A>C	XP_011529057.1:p.Asp4327Ala
XM_011530756.1:c.12932A>C	XP_011529058.1:p.Asp4311Ala
XM_011530757.1:c.12629A>C	XP_011529059.1:p.Asp4210Ala
XM_005261965.4:c.12782A>C	XP_005262022.1:p.Asp4261Ala
XM_011530751.2:c.13031A>C	XP_011529053.1:p.Asp4344Ala
XM_017029191.1:c.13163A>C	XP_016884680.1:p.Asp4388Ala
XM_017029192.1:c.13160A>C	XP_016884681.1:p.Asp4387Ala
XM_017029193.1:c.13142A>C	XP_016884682.1:p.Asp4381Ala
XM_017029194.1:c.13118A>C	XP_016884683.1:p.Asp4373Ala
XM_017029195.1:c.13115A>C	XP_016884684.1:p.Asp4372Ala
XM_017029196.1:c.13112A>C	XP_016884685.1:p.Asp4371Ala
XM_017029197.1:c.13064A>C	XP_016884686.1:p.Asp4355Ala
XM_017029198.2:c.13052A>C	XP_016884687.1:p.Asp4351Ala
XM_017029199.1:c.13052A>C	XP_016884688.1:p.Asp4351Ala
XM_017029200.1:c.13052A>C	XP_016884689.1:p.Asp4351Ala
XM_017029201.1:c.13052A>C	XP_016884690.1:p.Asp4351Ala
XM_017029202.1:c.13052A>C	XP_016884691.1:p.Asp4351Ala
XM_017029203.1:c.13052A>C	XP_016884692.1:p.Asp4351Ala
XM_017029204.1:c.12914A>C	XP_016884693.1:p.Asp4305Ala
XM_017029206.1:c.12761A>C	XP_016884695.1:p.Asp4254Ala
XM_024452322.1:c.13031A>C	XP_024308090.1:p.Asp4344Ala
NM_031407.7:c.12782A>C MANE Select	NP_113584.3:p.Asp4261Ala