Canonical Allele Identifier: CA413145167

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561124T>G (hg19) ; chrX:g.53534163T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534163T>G , CM000685.2:g.53534163T>G	GRCh38
NC_000023.10:g.53561124T>G , CM000685.1:g.53561124T>G	GRCh37
NC_000023.9:g.53577849T>G	NCBI36
NG_016261.2:g.157571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12650A>C	ENSP00000515693.1:p.Asp4217Ala
ENST00000262854.11:c.12866A>C MANE Select	ENSP00000262854.6:p.Asp4289Ala
ENST00000262854.10:c.12866A>C	ENSP00000262854.6:p.Asp4289Ala
ENST00000342160.7:c.12866A>C	ENSP00000340648.3:p.Asp4289Ala
ENST00000426907.5:c.3333A>C
ENST00000488459.1:n.179A>C
ENST00000612484.4:c.12839A>C	ENSP00000479451.1:p.Asp4280Ala
NM_031407.6:c.12866A>C	NP_113584.3:p.Asp4289Ala
XM_005261965.2:c.12866A>C	XP_005262022.1:p.Asp4289Ala
XM_011530746.1:c.13115A>C	XP_011529048.1:p.Asp4372Ala
XM_011530747.1:c.13115A>C	XP_011529049.1:p.Asp4372Ala
XM_011530748.1:c.13115A>C	XP_011529050.1:p.Asp4372Ala
XM_011530749.1:c.13115A>C	XP_011529051.1:p.Asp4372Ala
XM_011530750.1:c.13115A>C	XP_011529052.1:p.Asp4372Ala
XM_011530751.1:c.13115A>C	XP_011529053.1:p.Asp4372Ala
XM_011530752.1:c.13112A>C	XP_011529054.1:p.Asp4371Ala
XM_011530753.1:c.13070A>C	XP_011529055.1:p.Asp4357Ala
XM_011530754.1:c.13067A>C	XP_011529056.1:p.Asp4356Ala
XM_011530755.1:c.13064A>C	XP_011529057.1:p.Asp4355Ala
XM_011530756.1:c.13016A>C	XP_011529058.1:p.Asp4339Ala
XM_011530757.1:c.12713A>C	XP_011529059.1:p.Asp4238Ala
XM_005261965.4:c.12866A>C	XP_005262022.1:p.Asp4289Ala
XM_011530751.2:c.13115A>C	XP_011529053.1:p.Asp4372Ala
XM_017029191.1:c.13247A>C	XP_016884680.1:p.Asp4416Ala
XM_017029192.1:c.13244A>C	XP_016884681.1:p.Asp4415Ala
XM_017029193.1:c.13226A>C	XP_016884682.1:p.Asp4409Ala
XM_017029194.1:c.13202A>C	XP_016884683.1:p.Asp4401Ala
XM_017029195.1:c.13199A>C	XP_016884684.1:p.Asp4400Ala
XM_017029196.1:c.13196A>C	XP_016884685.1:p.Asp4399Ala
XM_017029197.1:c.13148A>C	XP_016884686.1:p.Asp4383Ala
XM_017029198.2:c.13136A>C	XP_016884687.1:p.Asp4379Ala
XM_017029199.1:c.13136A>C	XP_016884688.1:p.Asp4379Ala
XM_017029200.1:c.13136A>C	XP_016884689.1:p.Asp4379Ala
XM_017029201.1:c.13136A>C	XP_016884690.1:p.Asp4379Ala
XM_017029202.1:c.13136A>C	XP_016884691.1:p.Asp4379Ala
XM_017029203.1:c.13136A>C	XP_016884692.1:p.Asp4379Ala
XM_017029204.1:c.12998A>C	XP_016884693.1:p.Asp4333Ala
XM_017029206.1:c.12845A>C	XP_016884695.1:p.Asp4282Ala
XM_024452322.1:c.13115A>C	XP_024308090.1:p.Asp4372Ala
NM_031407.7:c.12866A>C MANE Select	NP_113584.3:p.Asp4289Ala