Canonical Allele Identifier: CA516423707

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564558A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537597A>C , CM000685.2:g.53537597A>C	GRCh38
NC_000023.10:g.53564558A>C , CM000685.1:g.53564558A>C	GRCh37
NC_000023.9:g.53581283A>C	NCBI36
NG_016261.2:g.154137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11880T>G	ENSP00000515693.1:p.Arg3960=
ENST00000262854.11:c.12096T>G MANE Select	ENSP00000262854.6:p.Arg4032=
ENST00000262854.10:c.12096T>G	ENSP00000262854.6:p.Arg4032=
ENST00000342160.7:c.12096T>G	ENSP00000340648.3:p.Arg4032=
ENST00000426907.5:c.2563T>G
ENST00000480438.1:n.231T>G
ENST00000612484.4:c.12069T>G	ENSP00000479451.1:p.Arg4023=
NM_031407.6:c.12096T>G	NP_113584.3:p.Arg4032=
XM_005261965.2:c.12096T>G	XP_005262022.1:p.Arg4032=
XM_011530746.1:c.12345T>G	XP_011529048.1:p.Arg4115=
XM_011530747.1:c.12345T>G	XP_011529049.1:p.Arg4115=
XM_011530748.1:c.12345T>G	XP_011529050.1:p.Arg4115=
XM_011530749.1:c.12345T>G	XP_011529051.1:p.Arg4115=
XM_011530750.1:c.12345T>G	XP_011529052.1:p.Arg4115=
XM_011530751.1:c.12345T>G	XP_011529053.1:p.Arg4115=
XM_011530752.1:c.12342T>G	XP_011529054.1:p.Arg4114=
XM_011530753.1:c.12300T>G	XP_011529055.1:p.Arg4100=
XM_011530754.1:c.12297T>G	XP_011529056.1:p.Arg4099=
XM_011530755.1:c.12294T>G	XP_011529057.1:p.Arg4098=
XM_011530756.1:c.12246T>G	XP_011529058.1:p.Arg4082=
XM_011530757.1:c.11943T>G	XP_011529059.1:p.Arg3981=
XM_005261965.4:c.12096T>G	XP_005262022.1:p.Arg4032=
XM_011530751.2:c.12345T>G	XP_011529053.1:p.Arg4115=
XM_017029191.1:c.12477T>G	XP_016884680.1:p.Arg4159=
XM_017029192.1:c.12474T>G	XP_016884681.1:p.Arg4158=
XM_017029193.1:c.12456T>G	XP_016884682.1:p.Arg4152=
XM_017029194.1:c.12432T>G	XP_016884683.1:p.Arg4144=
XM_017029195.1:c.12429T>G	XP_016884684.1:p.Arg4143=
XM_017029196.1:c.12426T>G	XP_016884685.1:p.Arg4142=
XM_017029197.1:c.12378T>G	XP_016884686.1:p.Arg4126=
XM_017029198.2:c.12366T>G	XP_016884687.1:p.Arg4122=
XM_017029199.1:c.12366T>G	XP_016884688.1:p.Arg4122=
XM_017029200.1:c.12366T>G	XP_016884689.1:p.Arg4122=
XM_017029201.1:c.12366T>G	XP_016884690.1:p.Arg4122=
XM_017029202.1:c.12366T>G	XP_016884691.1:p.Arg4122=
XM_017029203.1:c.12366T>G	XP_016884692.1:p.Arg4122=
XM_017029204.1:c.12228T>G	XP_016884693.1:p.Arg4076=
XM_017029206.1:c.12075T>G	XP_016884695.1:p.Arg4025=
XM_024452322.1:c.12345T>G	XP_024308090.1:p.Arg4115=
NM_031407.7:c.12096T>G MANE Select	NP_113584.3:p.Arg4032=