Canonical Allele Identifier: CA413155445

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 375718
• ClinVar RCV Id: RCV000498781 ; RCV001547214 ; RCV002318372
• dbSNP Id: rs1556914274
• COSMIC: COSM5711706 ; COSM5711707
• MyVariant Identifiers: chrX:g.53564587G>A (hg19) ; chrX:g.53537626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537626G>A , CM000685.2:g.53537626G>A	GRCh38
NC_000023.10:g.53564587G>A , CM000685.1:g.53564587G>A	GRCh37
NC_000023.9:g.53581312G>A	NCBI36
NG_016261.2:g.154108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11851C>T	ENSP00000515693.1:p.Arg3951Cys
ENST00000262854.11:c.12067C>T MANE Select	ENSP00000262854.6:p.Arg4023Cys
ENST00000262854.10:c.12067C>T	ENSP00000262854.6:p.Arg4023Cys
ENST00000342160.7:c.12067C>T	ENSP00000340648.3:p.Arg4023Cys
ENST00000426907.5:c.2534C>T
ENST00000480438.1:n.202C>T
ENST00000612484.4:c.12040C>T	ENSP00000479451.1:p.Arg4014Cys
NM_031407.6:c.12067C>T	NP_113584.3:p.Arg4023Cys
XM_005261965.2:c.12067C>T	XP_005262022.1:p.Arg4023Cys
XM_011530746.1:c.12316C>T	XP_011529048.1:p.Arg4106Cys
XM_011530747.1:c.12316C>T	XP_011529049.1:p.Arg4106Cys
XM_011530748.1:c.12316C>T	XP_011529050.1:p.Arg4106Cys
XM_011530749.1:c.12316C>T	XP_011529051.1:p.Arg4106Cys
XM_011530750.1:c.12316C>T	XP_011529052.1:p.Arg4106Cys
XM_011530751.1:c.12316C>T	XP_011529053.1:p.Arg4106Cys
XM_011530752.1:c.12313C>T	XP_011529054.1:p.Arg4105Cys
XM_011530753.1:c.12271C>T	XP_011529055.1:p.Arg4091Cys
XM_011530754.1:c.12268C>T	XP_011529056.1:p.Arg4090Cys
XM_011530755.1:c.12265C>T	XP_011529057.1:p.Arg4089Cys
XM_011530756.1:c.12217C>T	XP_011529058.1:p.Arg4073Cys
XM_011530757.1:c.11914C>T	XP_011529059.1:p.Arg3972Cys
XM_005261965.4:c.12067C>T	XP_005262022.1:p.Arg4023Cys
XM_011530751.2:c.12316C>T	XP_011529053.1:p.Arg4106Cys
XM_017029191.1:c.12448C>T	XP_016884680.1:p.Arg4150Cys
XM_017029192.1:c.12445C>T	XP_016884681.1:p.Arg4149Cys
XM_017029193.1:c.12427C>T	XP_016884682.1:p.Arg4143Cys
XM_017029194.1:c.12403C>T	XP_016884683.1:p.Arg4135Cys
XM_017029195.1:c.12400C>T	XP_016884684.1:p.Arg4134Cys
XM_017029196.1:c.12397C>T	XP_016884685.1:p.Arg4133Cys
XM_017029197.1:c.12349C>T	XP_016884686.1:p.Arg4117Cys
XM_017029198.2:c.12337C>T	XP_016884687.1:p.Arg4113Cys
XM_017029199.1:c.12337C>T	XP_016884688.1:p.Arg4113Cys
XM_017029200.1:c.12337C>T	XP_016884689.1:p.Arg4113Cys
XM_017029201.1:c.12337C>T	XP_016884690.1:p.Arg4113Cys
XM_017029202.1:c.12337C>T	XP_016884691.1:p.Arg4113Cys
XM_017029203.1:c.12337C>T	XP_016884692.1:p.Arg4113Cys
XM_017029204.1:c.12199C>T	XP_016884693.1:p.Arg4067Cys
XM_017029206.1:c.12046C>T	XP_016884695.1:p.Arg4016Cys
XM_024452322.1:c.12316C>T	XP_024308090.1:p.Arg4106Cys
NM_031407.7:c.12067C>T MANE Select	NP_113584.3:p.Arg4023Cys