Canonical Allele Identifier: CA2429870465

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537655C= , CM000685.2:g.53537655C=	GRCh38
NC_000023.10:g.53564616C= , CM000685.1:g.53564616C=	GRCh37
NC_000023.9:g.53581341C=	NCBI36
NG_016261.2:g.154079G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11822G=	ENSP00000515693.1:p.Arg3941=
ENST00000262854.11:c.12038G= MANE Select	ENSP00000262854.6:p.Arg4013=
ENST00000262854.10:c.12038G=	ENSP00000262854.6:p.Arg4013=
ENST00000342160.7:c.12038G=	ENSP00000340648.3:p.Arg4013=
ENST00000426907.5:c.2505G=
ENST00000480438.1:n.173G=
ENST00000612484.4:c.12011G=	ENSP00000479451.1:p.Arg4004=
NM_031407.6:c.12038G=	NP_113584.3:p.Arg4013=
XM_005261965.2:c.12038G=	XP_005262022.1:p.Arg4013=
XM_011530746.1:c.12287G=	XP_011529048.1:p.Arg4096=
XM_011530747.1:c.12287G=	XP_011529049.1:p.Arg4096=
XM_011530748.1:c.12287G=	XP_011529050.1:p.Arg4096=
XM_011530749.1:c.12287G=	XP_011529051.1:p.Arg4096=
XM_011530750.1:c.12287G=	XP_011529052.1:p.Arg4096=
XM_011530751.1:c.12287G=	XP_011529053.1:p.Arg4096=
XM_011530752.1:c.12284G=	XP_011529054.1:p.Arg4095=
XM_011530753.1:c.12242G=	XP_011529055.1:p.Arg4081=
XM_011530754.1:c.12239G=	XP_011529056.1:p.Arg4080=
XM_011530755.1:c.12236G=	XP_011529057.1:p.Arg4079=
XM_011530756.1:c.12188G=	XP_011529058.1:p.Arg4063=
XM_011530757.1:c.11885G=	XP_011529059.1:p.Arg3962=
XM_005261965.4:c.12038G=	XP_005262022.1:p.Arg4013=
XM_011530751.2:c.12287G=	XP_011529053.1:p.Arg4096=
XM_017029191.1:c.12419G=	XP_016884680.1:p.Arg4140=
XM_017029192.1:c.12416G=	XP_016884681.1:p.Arg4139=
XM_017029193.1:c.12398G=	XP_016884682.1:p.Arg4133=
XM_017029194.1:c.12374G=	XP_016884683.1:p.Arg4125=
XM_017029195.1:c.12371G=	XP_016884684.1:p.Arg4124=
XM_017029196.1:c.12368G=	XP_016884685.1:p.Arg4123=
XM_017029197.1:c.12320G=	XP_016884686.1:p.Arg4107=
XM_017029198.2:c.12308G=	XP_016884687.1:p.Arg4103=
XM_017029199.1:c.12308G=	XP_016884688.1:p.Arg4103=
XM_017029200.1:c.12308G=	XP_016884689.1:p.Arg4103=
XM_017029201.1:c.12308G=	XP_016884690.1:p.Arg4103=
XM_017029202.1:c.12308G=	XP_016884691.1:p.Arg4103=
XM_017029203.1:c.12308G=	XP_016884692.1:p.Arg4103=
XM_017029204.1:c.12170G=	XP_016884693.1:p.Arg4057=
XM_017029206.1:c.12017G=	XP_016884695.1:p.Arg4006=
XM_024452322.1:c.12287G=	XP_024308090.1:p.Arg4096=
NM_031407.7:c.12038G= MANE Select	NP_113584.3:p.Arg4013=