Canonical Allele Identifier: CA516423533

Gene: HUWE1

Linked Data

• gnomAD v4: X-53537560-G-T
• MyVariant Identifiers: chrX:g.53564521G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537560G>T , CM000685.2:g.53537560G>T	GRCh38
NC_000023.10:g.53564521G>T , CM000685.1:g.53564521G>T	GRCh37
NC_000023.9:g.53581246G>T	NCBI36
NG_016261.2:g.154174C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11917C>A	ENSP00000515693.1:p.Arg3973=
ENST00000262854.11:c.12133C>A MANE Select	ENSP00000262854.6:p.Arg4045=
ENST00000262854.10:c.12133C>A	ENSP00000262854.6:p.Arg4045=
ENST00000342160.7:c.12133C>A	ENSP00000340648.3:p.Arg4045=
ENST00000426907.5:c.2600C>A
ENST00000480438.1:n.268C>A
ENST00000612484.4:c.12106C>A	ENSP00000479451.1:p.Arg4036=
NM_031407.6:c.12133C>A	NP_113584.3:p.Arg4045=
XM_005261965.2:c.12133C>A	XP_005262022.1:p.Arg4045=
XM_011530746.1:c.12382C>A	XP_011529048.1:p.Arg4128=
XM_011530747.1:c.12382C>A	XP_011529049.1:p.Arg4128=
XM_011530748.1:c.12382C>A	XP_011529050.1:p.Arg4128=
XM_011530749.1:c.12382C>A	XP_011529051.1:p.Arg4128=
XM_011530750.1:c.12382C>A	XP_011529052.1:p.Arg4128=
XM_011530751.1:c.12382C>A	XP_011529053.1:p.Arg4128=
XM_011530752.1:c.12379C>A	XP_011529054.1:p.Arg4127=
XM_011530753.1:c.12337C>A	XP_011529055.1:p.Arg4113=
XM_011530754.1:c.12334C>A	XP_011529056.1:p.Arg4112=
XM_011530755.1:c.12331C>A	XP_011529057.1:p.Arg4111=
XM_011530756.1:c.12283C>A	XP_011529058.1:p.Arg4095=
XM_011530757.1:c.11980C>A	XP_011529059.1:p.Arg3994=
XM_005261965.4:c.12133C>A	XP_005262022.1:p.Arg4045=
XM_011530751.2:c.12382C>A	XP_011529053.1:p.Arg4128=
XM_017029191.1:c.12514C>A	XP_016884680.1:p.Arg4172=
XM_017029192.1:c.12511C>A	XP_016884681.1:p.Arg4171=
XM_017029193.1:c.12493C>A	XP_016884682.1:p.Arg4165=
XM_017029194.1:c.12469C>A	XP_016884683.1:p.Arg4157=
XM_017029195.1:c.12466C>A	XP_016884684.1:p.Arg4156=
XM_017029196.1:c.12463C>A	XP_016884685.1:p.Arg4155=
XM_017029197.1:c.12415C>A	XP_016884686.1:p.Arg4139=
XM_017029198.2:c.12403C>A	XP_016884687.1:p.Arg4135=
XM_017029199.1:c.12403C>A	XP_016884688.1:p.Arg4135=
XM_017029200.1:c.12403C>A	XP_016884689.1:p.Arg4135=
XM_017029201.1:c.12403C>A	XP_016884690.1:p.Arg4135=
XM_017029202.1:c.12403C>A	XP_016884691.1:p.Arg4135=
XM_017029203.1:c.12403C>A	XP_016884692.1:p.Arg4135=
XM_017029204.1:c.12265C>A	XP_016884693.1:p.Arg4089=
XM_017029206.1:c.12112C>A	XP_016884695.1:p.Arg4038=
XM_024452322.1:c.12382C>A	XP_024308090.1:p.Arg4128=
NM_031407.7:c.12133C>A MANE Select	NP_113584.3:p.Arg4045=