Canonical Allele Identifier: CA2429870470

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537674G= , CM000685.2:g.53537674G=	GRCh38
NC_000023.10:g.53564635G= , CM000685.1:g.53564635G=	GRCh37
NC_000023.9:g.53581360G=	NCBI36
NG_016261.2:g.154060C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11803C=	ENSP00000515693.1:p.Arg3935=
ENST00000262854.11:c.12019C= MANE Select	ENSP00000262854.6:p.Arg4007=
ENST00000262854.10:c.12019C=	ENSP00000262854.6:p.Arg4007=
ENST00000342160.7:c.12019C=	ENSP00000340648.3:p.Arg4007=
ENST00000426907.5:c.2486C=
ENST00000480438.1:n.154C=
ENST00000612484.4:c.11992C=	ENSP00000479451.1:p.Arg3998=
NM_031407.6:c.12019C=	NP_113584.3:p.Arg4007=
XM_005261965.2:c.12019C=	XP_005262022.1:p.Arg4007=
XM_011530746.1:c.12268C=	XP_011529048.1:p.Arg4090=
XM_011530747.1:c.12268C=	XP_011529049.1:p.Arg4090=
XM_011530748.1:c.12268C=	XP_011529050.1:p.Arg4090=
XM_011530749.1:c.12268C=	XP_011529051.1:p.Arg4090=
XM_011530750.1:c.12268C=	XP_011529052.1:p.Arg4090=
XM_011530751.1:c.12268C=	XP_011529053.1:p.Arg4090=
XM_011530752.1:c.12265C=	XP_011529054.1:p.Arg4089=
XM_011530753.1:c.12223C=	XP_011529055.1:p.Arg4075=
XM_011530754.1:c.12220C=	XP_011529056.1:p.Arg4074=
XM_011530755.1:c.12217C=	XP_011529057.1:p.Arg4073=
XM_011530756.1:c.12169C=	XP_011529058.1:p.Arg4057=
XM_011530757.1:c.11866C=	XP_011529059.1:p.Arg3956=
XM_005261965.4:c.12019C=	XP_005262022.1:p.Arg4007=
XM_011530751.2:c.12268C=	XP_011529053.1:p.Arg4090=
XM_017029191.1:c.12400C=	XP_016884680.1:p.Arg4134=
XM_017029192.1:c.12397C=	XP_016884681.1:p.Arg4133=
XM_017029193.1:c.12379C=	XP_016884682.1:p.Arg4127=
XM_017029194.1:c.12355C=	XP_016884683.1:p.Arg4119=
XM_017029195.1:c.12352C=	XP_016884684.1:p.Arg4118=
XM_017029196.1:c.12349C=	XP_016884685.1:p.Arg4117=
XM_017029197.1:c.12301C=	XP_016884686.1:p.Arg4101=
XM_017029198.2:c.12289C=	XP_016884687.1:p.Arg4097=
XM_017029199.1:c.12289C=	XP_016884688.1:p.Arg4097=
XM_017029200.1:c.12289C=	XP_016884689.1:p.Arg4097=
XM_017029201.1:c.12289C=	XP_016884690.1:p.Arg4097=
XM_017029202.1:c.12289C=	XP_016884691.1:p.Arg4097=
XM_017029203.1:c.12289C=	XP_016884692.1:p.Arg4097=
XM_017029204.1:c.12151C=	XP_016884693.1:p.Arg4051=
XM_017029206.1:c.11998C=	XP_016884695.1:p.Arg4000=
XM_024452322.1:c.12268C=	XP_024308090.1:p.Arg4090=
NM_031407.7:c.12019C= MANE Select	NP_113584.3:p.Arg4007=