Canonical Allele Identifier: CA2429868919

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534151C= , CM000685.2:g.53534151C=	GRCh38
NC_000023.10:g.53561112C= , CM000685.1:g.53561112C=	GRCh37
NC_000023.9:g.53577837C=	NCBI36
NG_016261.2:g.157583G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12662G=	ENSP00000515693.1:p.Arg4221=
ENST00000262854.11:c.12878G= MANE Select	ENSP00000262854.6:p.Arg4293=
ENST00000262854.10:c.12878G=	ENSP00000262854.6:p.Arg4293=
ENST00000342160.7:c.12878G=	ENSP00000340648.3:p.Arg4293=
ENST00000426907.5:c.3345G=
ENST00000488459.1:n.191G=
ENST00000612484.4:c.12851G=	ENSP00000479451.1:p.Arg4284=
NM_031407.6:c.12878G=	NP_113584.3:p.Arg4293=
XM_005261965.2:c.12878G=	XP_005262022.1:p.Arg4293=
XM_011530746.1:c.13127G=	XP_011529048.1:p.Arg4376=
XM_011530747.1:c.13127G=	XP_011529049.1:p.Arg4376=
XM_011530748.1:c.13127G=	XP_011529050.1:p.Arg4376=
XM_011530749.1:c.13127G=	XP_011529051.1:p.Arg4376=
XM_011530750.1:c.13127G=	XP_011529052.1:p.Arg4376=
XM_011530751.1:c.13127G=	XP_011529053.1:p.Arg4376=
XM_011530752.1:c.13124G=	XP_011529054.1:p.Arg4375=
XM_011530753.1:c.13082G=	XP_011529055.1:p.Arg4361=
XM_011530754.1:c.13079G=	XP_011529056.1:p.Arg4360=
XM_011530755.1:c.13076G=	XP_011529057.1:p.Arg4359=
XM_011530756.1:c.13028G=	XP_011529058.1:p.Arg4343=
XM_011530757.1:c.12725G=	XP_011529059.1:p.Arg4242=
XM_005261965.4:c.12878G=	XP_005262022.1:p.Arg4293=
XM_011530751.2:c.13127G=	XP_011529053.1:p.Arg4376=
XM_017029191.1:c.13259G=	XP_016884680.1:p.Arg4420=
XM_017029192.1:c.13256G=	XP_016884681.1:p.Arg4419=
XM_017029193.1:c.13238G=	XP_016884682.1:p.Arg4413=
XM_017029194.1:c.13214G=	XP_016884683.1:p.Arg4405=
XM_017029195.1:c.13211G=	XP_016884684.1:p.Arg4404=
XM_017029196.1:c.13208G=	XP_016884685.1:p.Arg4403=
XM_017029197.1:c.13160G=	XP_016884686.1:p.Arg4387=
XM_017029198.2:c.13148G=	XP_016884687.1:p.Arg4383=
XM_017029199.1:c.13148G=	XP_016884688.1:p.Arg4383=
XM_017029200.1:c.13148G=	XP_016884689.1:p.Arg4383=
XM_017029201.1:c.13148G=	XP_016884690.1:p.Arg4383=
XM_017029202.1:c.13148G=	XP_016884691.1:p.Arg4383=
XM_017029203.1:c.13148G=	XP_016884692.1:p.Arg4383=
XM_017029204.1:c.13010G=	XP_016884693.1:p.Arg4337=
XM_017029206.1:c.12857G=	XP_016884695.1:p.Arg4286=
XM_024452322.1:c.13127G=	XP_024308090.1:p.Arg4376=
NM_031407.7:c.12878G= MANE Select	NP_113584.3:p.Arg4293=