Canonical Allele Identifier: CA2429868891

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534036G= , CM000685.2:g.53534036G=	GRCh38
NC_000023.10:g.53560997G= , CM000685.1:g.53560997G=	GRCh37
NC_000023.9:g.53577722G=	NCBI36
NG_016261.2:g.157698C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12777C=	ENSP00000515693.1:p.Ser4259=
ENST00000262854.11:c.12993C= MANE Select	ENSP00000262854.6:p.Ser4331=
ENST00000262854.10:c.12993C=	ENSP00000262854.6:p.Ser4331=
ENST00000342160.7:c.12993C=	ENSP00000340648.3:p.Ser4331=
ENST00000426907.5:c.3460C=
ENST00000488459.1:n.306C=
ENST00000612484.4:c.12966C=	ENSP00000479451.1:p.Ser4322=
NM_031407.6:c.12993C=	NP_113584.3:p.Ser4331=
XM_005261965.2:c.12993C=	XP_005262022.1:p.Ser4331=
XM_011530746.1:c.13242C=	XP_011529048.1:p.Ser4414=
XM_011530747.1:c.13242C=	XP_011529049.1:p.Ser4414=
XM_011530748.1:c.13242C=	XP_011529050.1:p.Ser4414=
XM_011530749.1:c.13242C=	XP_011529051.1:p.Ser4414=
XM_011530750.1:c.13242C=	XP_011529052.1:p.Ser4414=
XM_011530751.1:c.13242C=	XP_011529053.1:p.Ser4414=
XM_011530752.1:c.13239C=	XP_011529054.1:p.Ser4413=
XM_011530753.1:c.13197C=	XP_011529055.1:p.Ser4399=
XM_011530754.1:c.13194C=	XP_011529056.1:p.Ser4398=
XM_011530755.1:c.13191C=	XP_011529057.1:p.Ser4397=
XM_011530756.1:c.13143C=	XP_011529058.1:p.Ser4381=
XM_011530757.1:c.12840C=	XP_011529059.1:p.Ser4280=
XM_005261965.4:c.12993C=	XP_005262022.1:p.Ser4331=
XM_011530751.2:c.13242C=	XP_011529053.1:p.Ser4414=
XM_017029191.1:c.13374C=	XP_016884680.1:p.Ser4458=
XM_017029192.1:c.13371C=	XP_016884681.1:p.Ser4457=
XM_017029193.1:c.13353C=	XP_016884682.1:p.Ser4451=
XM_017029194.1:c.13329C=	XP_016884683.1:p.Ser4443=
XM_017029195.1:c.13326C=	XP_016884684.1:p.Ser4442=
XM_017029196.1:c.13323C=	XP_016884685.1:p.Ser4441=
XM_017029197.1:c.13275C=	XP_016884686.1:p.Ser4425=
XM_017029198.2:c.13263C=	XP_016884687.1:p.Ser4421=
XM_017029199.1:c.13263C=	XP_016884688.1:p.Ser4421=
XM_017029200.1:c.13263C=	XP_016884689.1:p.Ser4421=
XM_017029201.1:c.13263C=	XP_016884690.1:p.Ser4421=
XM_017029202.1:c.13263C=	XP_016884691.1:p.Ser4421=
XM_017029203.1:c.13263C=	XP_016884692.1:p.Ser4421=
XM_017029204.1:c.13125C=	XP_016884693.1:p.Ser4375=
XM_017029206.1:c.12972C=	XP_016884695.1:p.Ser4324=
XM_024452322.1:c.13242C=	XP_024308090.1:p.Ser4414=
NM_031407.7:c.12993C= MANE Select	NP_113584.3:p.Ser4331=