Canonical Allele Identifier: CA516420175

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561480A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534519A>G , CM000685.2:g.53534519A>G	GRCh38
NC_000023.10:g.53561480A>G , CM000685.1:g.53561480A>G	GRCh37
NC_000023.9:g.53578205A>G	NCBI36
NG_016261.2:g.157215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12612T>C	ENSP00000515693.1:p.Ile4204=
ENST00000262854.11:c.12828T>C MANE Select	ENSP00000262854.6:p.Ile4276=
ENST00000262854.10:c.12828T>C	ENSP00000262854.6:p.Ile4276=
ENST00000342160.7:c.12828T>C	ENSP00000340648.3:p.Ile4276=
ENST00000426907.5:c.3295T>C
ENST00000488459.1:n.141T>C
ENST00000612484.4:c.12801T>C	ENSP00000479451.1:p.Ile4267=
NM_031407.6:c.12828T>C	NP_113584.3:p.Ile4276=
XM_005261965.2:c.12828T>C	XP_005262022.1:p.Ile4276=
XM_011530746.1:c.13077T>C	XP_011529048.1:p.Ile4359=
XM_011530747.1:c.13077T>C	XP_011529049.1:p.Ile4359=
XM_011530748.1:c.13077T>C	XP_011529050.1:p.Ile4359=
XM_011530749.1:c.13077T>C	XP_011529051.1:p.Ile4359=
XM_011530750.1:c.13077T>C	XP_011529052.1:p.Ile4359=
XM_011530751.1:c.13077T>C	XP_011529053.1:p.Ile4359=
XM_011530752.1:c.13074T>C	XP_011529054.1:p.Ile4358=
XM_011530753.1:c.13032T>C	XP_011529055.1:p.Ile4344=
XM_011530754.1:c.13029T>C	XP_011529056.1:p.Ile4343=
XM_011530755.1:c.13026T>C	XP_011529057.1:p.Ile4342=
XM_011530756.1:c.12978T>C	XP_011529058.1:p.Ile4326=
XM_011530757.1:c.12675T>C	XP_011529059.1:p.Ile4225=
XM_005261965.4:c.12828T>C	XP_005262022.1:p.Ile4276=
XM_011530751.2:c.13077T>C	XP_011529053.1:p.Ile4359=
XM_017029191.1:c.13209T>C	XP_016884680.1:p.Ile4403=
XM_017029192.1:c.13206T>C	XP_016884681.1:p.Ile4402=
XM_017029193.1:c.13188T>C	XP_016884682.1:p.Ile4396=
XM_017029194.1:c.13164T>C	XP_016884683.1:p.Ile4388=
XM_017029195.1:c.13161T>C	XP_016884684.1:p.Ile4387=
XM_017029196.1:c.13158T>C	XP_016884685.1:p.Ile4386=
XM_017029197.1:c.13110T>C	XP_016884686.1:p.Ile4370=
XM_017029198.2:c.13098T>C	XP_016884687.1:p.Ile4366=
XM_017029199.1:c.13098T>C	XP_016884688.1:p.Ile4366=
XM_017029200.1:c.13098T>C	XP_016884689.1:p.Ile4366=
XM_017029201.1:c.13098T>C	XP_016884690.1:p.Ile4366=
XM_017029202.1:c.13098T>C	XP_016884691.1:p.Ile4366=
XM_017029203.1:c.13098T>C	XP_016884692.1:p.Ile4366=
XM_017029204.1:c.12960T>C	XP_016884693.1:p.Ile4320=
XM_017029206.1:c.12807T>C	XP_016884695.1:p.Ile4269=
XM_024452322.1:c.13077T>C	XP_024308090.1:p.Ile4359=
NM_031407.7:c.12828T>C MANE Select	NP_113584.3:p.Ile4276=