Canonical Allele Identifier: CA2429868929

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534186G= , CM000685.2:g.53534186G=	GRCh38
NC_000023.10:g.53561147G= , CM000685.1:g.53561147G=	GRCh37
NC_000023.9:g.53577872G=	NCBI36
NG_016261.2:g.157548C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12627C=	ENSP00000515693.1:p.Phe4209=
ENST00000262854.11:c.12843C= MANE Select	ENSP00000262854.6:p.Phe4281=
ENST00000262854.10:c.12843C=	ENSP00000262854.6:p.Phe4281=
ENST00000342160.7:c.12843C=	ENSP00000340648.3:p.Phe4281=
ENST00000426907.5:c.3310C=
ENST00000488459.1:n.156C=
ENST00000612484.4:c.12816C=	ENSP00000479451.1:p.Phe4272=
NM_031407.6:c.12843C=	NP_113584.3:p.Phe4281=
XM_005261965.2:c.12843C=	XP_005262022.1:p.Phe4281=
XM_011530746.1:c.13092C=	XP_011529048.1:p.Phe4364=
XM_011530747.1:c.13092C=	XP_011529049.1:p.Phe4364=
XM_011530748.1:c.13092C=	XP_011529050.1:p.Phe4364=
XM_011530749.1:c.13092C=	XP_011529051.1:p.Phe4364=
XM_011530750.1:c.13092C=	XP_011529052.1:p.Phe4364=
XM_011530751.1:c.13092C=	XP_011529053.1:p.Phe4364=
XM_011530752.1:c.13089C=	XP_011529054.1:p.Phe4363=
XM_011530753.1:c.13047C=	XP_011529055.1:p.Phe4349=
XM_011530754.1:c.13044C=	XP_011529056.1:p.Phe4348=
XM_011530755.1:c.13041C=	XP_011529057.1:p.Phe4347=
XM_011530756.1:c.12993C=	XP_011529058.1:p.Phe4331=
XM_011530757.1:c.12690C=	XP_011529059.1:p.Phe4230=
XM_005261965.4:c.12843C=	XP_005262022.1:p.Phe4281=
XM_011530751.2:c.13092C=	XP_011529053.1:p.Phe4364=
XM_017029191.1:c.13224C=	XP_016884680.1:p.Phe4408=
XM_017029192.1:c.13221C=	XP_016884681.1:p.Phe4407=
XM_017029193.1:c.13203C=	XP_016884682.1:p.Phe4401=
XM_017029194.1:c.13179C=	XP_016884683.1:p.Phe4393=
XM_017029195.1:c.13176C=	XP_016884684.1:p.Phe4392=
XM_017029196.1:c.13173C=	XP_016884685.1:p.Phe4391=
XM_017029197.1:c.13125C=	XP_016884686.1:p.Phe4375=
XM_017029198.2:c.13113C=	XP_016884687.1:p.Phe4371=
XM_017029199.1:c.13113C=	XP_016884688.1:p.Phe4371=
XM_017029200.1:c.13113C=	XP_016884689.1:p.Phe4371=
XM_017029201.1:c.13113C=	XP_016884690.1:p.Phe4371=
XM_017029202.1:c.13113C=	XP_016884691.1:p.Phe4371=
XM_017029203.1:c.13113C=	XP_016884692.1:p.Phe4371=
XM_017029204.1:c.12975C=	XP_016884693.1:p.Phe4325=
XM_017029206.1:c.12822C=	XP_016884695.1:p.Phe4274=
XM_024452322.1:c.13092C=	XP_024308090.1:p.Phe4364=
NM_031407.7:c.12843C= MANE Select	NP_113584.3:p.Phe4281=