Canonical Allele Identifier: CA413146171

Gene: HUWE1

Linked Data

• dbSNP Id: rs1556910136
• gnomAD v2: X-53561527-C-T
• gnomAD v4: X-53534566-C-T
• MyVariant Identifiers: chrX:g.53561527C>T (hg19) ; chrX:g.53534566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534566C>T , CM000685.2:g.53534566C>T	GRCh38
NC_000023.10:g.53561527C>T , CM000685.1:g.53561527C>T	GRCh37
NC_000023.9:g.53578252C>T	NCBI36
NG_016261.2:g.157168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12565G>A	ENSP00000515693.1:p.Asp4189Asn
ENST00000262854.11:c.12781G>A MANE Select	ENSP00000262854.6:p.Asp4261Asn
ENST00000262854.10:c.12781G>A	ENSP00000262854.6:p.Asp4261Asn
ENST00000342160.7:c.12781G>A	ENSP00000340648.3:p.Asp4261Asn
ENST00000426907.5:c.3248G>A
ENST00000488459.1:n.94G>A
ENST00000612484.4:c.12754G>A	ENSP00000479451.1:p.Asp4252Asn
NM_031407.6:c.12781G>A	NP_113584.3:p.Asp4261Asn
XM_005261965.2:c.12781G>A	XP_005262022.1:p.Asp4261Asn
XM_011530746.1:c.13030G>A	XP_011529048.1:p.Asp4344Asn
XM_011530747.1:c.13030G>A	XP_011529049.1:p.Asp4344Asn
XM_011530748.1:c.13030G>A	XP_011529050.1:p.Asp4344Asn
XM_011530749.1:c.13030G>A	XP_011529051.1:p.Asp4344Asn
XM_011530750.1:c.13030G>A	XP_011529052.1:p.Asp4344Asn
XM_011530751.1:c.13030G>A	XP_011529053.1:p.Asp4344Asn
XM_011530752.1:c.13027G>A	XP_011529054.1:p.Asp4343Asn
XM_011530753.1:c.12985G>A	XP_011529055.1:p.Asp4329Asn
XM_011530754.1:c.12982G>A	XP_011529056.1:p.Asp4328Asn
XM_011530755.1:c.12979G>A	XP_011529057.1:p.Asp4327Asn
XM_011530756.1:c.12931G>A	XP_011529058.1:p.Asp4311Asn
XM_011530757.1:c.12628G>A	XP_011529059.1:p.Asp4210Asn
XM_005261965.4:c.12781G>A	XP_005262022.1:p.Asp4261Asn
XM_011530751.2:c.13030G>A	XP_011529053.1:p.Asp4344Asn
XM_017029191.1:c.13162G>A	XP_016884680.1:p.Asp4388Asn
XM_017029192.1:c.13159G>A	XP_016884681.1:p.Asp4387Asn
XM_017029193.1:c.13141G>A	XP_016884682.1:p.Asp4381Asn
XM_017029194.1:c.13117G>A	XP_016884683.1:p.Asp4373Asn
XM_017029195.1:c.13114G>A	XP_016884684.1:p.Asp4372Asn
XM_017029196.1:c.13111G>A	XP_016884685.1:p.Asp4371Asn
XM_017029197.1:c.13063G>A	XP_016884686.1:p.Asp4355Asn
XM_017029198.2:c.13051G>A	XP_016884687.1:p.Asp4351Asn
XM_017029199.1:c.13051G>A	XP_016884688.1:p.Asp4351Asn
XM_017029200.1:c.13051G>A	XP_016884689.1:p.Asp4351Asn
XM_017029201.1:c.13051G>A	XP_016884690.1:p.Asp4351Asn
XM_017029202.1:c.13051G>A	XP_016884691.1:p.Asp4351Asn
XM_017029203.1:c.13051G>A	XP_016884692.1:p.Asp4351Asn
XM_017029204.1:c.12913G>A	XP_016884693.1:p.Asp4305Asn
XM_017029206.1:c.12760G>A	XP_016884695.1:p.Asp4254Asn
XM_024452322.1:c.13030G>A	XP_024308090.1:p.Asp4344Asn
NM_031407.7:c.12781G>A MANE Select	NP_113584.3:p.Asp4261Asn