Canonical Allele Identifier: CA516420296

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561504G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534543G>A , CM000685.2:g.53534543G>A	GRCh38
NC_000023.10:g.53561504G>A , CM000685.1:g.53561504G>A	GRCh37
NC_000023.9:g.53578229G>A	NCBI36
NG_016261.2:g.157191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12588C>T	ENSP00000515693.1:p.Tyr4196=
ENST00000262854.11:c.12804C>T MANE Select	ENSP00000262854.6:p.Tyr4268=
ENST00000262854.10:c.12804C>T	ENSP00000262854.6:p.Tyr4268=
ENST00000342160.7:c.12804C>T	ENSP00000340648.3:p.Tyr4268=
ENST00000426907.5:c.3271C>T
ENST00000488459.1:n.117C>T
ENST00000612484.4:c.12777C>T	ENSP00000479451.1:p.Tyr4259=
NM_031407.6:c.12804C>T	NP_113584.3:p.Tyr4268=
XM_005261965.2:c.12804C>T	XP_005262022.1:p.Tyr4268=
XM_011530746.1:c.13053C>T	XP_011529048.1:p.Tyr4351=
XM_011530747.1:c.13053C>T	XP_011529049.1:p.Tyr4351=
XM_011530748.1:c.13053C>T	XP_011529050.1:p.Tyr4351=
XM_011530749.1:c.13053C>T	XP_011529051.1:p.Tyr4351=
XM_011530750.1:c.13053C>T	XP_011529052.1:p.Tyr4351=
XM_011530751.1:c.13053C>T	XP_011529053.1:p.Tyr4351=
XM_011530752.1:c.13050C>T	XP_011529054.1:p.Tyr4350=
XM_011530753.1:c.13008C>T	XP_011529055.1:p.Tyr4336=
XM_011530754.1:c.13005C>T	XP_011529056.1:p.Tyr4335=
XM_011530755.1:c.13002C>T	XP_011529057.1:p.Tyr4334=
XM_011530756.1:c.12954C>T	XP_011529058.1:p.Tyr4318=
XM_011530757.1:c.12651C>T	XP_011529059.1:p.Tyr4217=
XM_005261965.4:c.12804C>T	XP_005262022.1:p.Tyr4268=
XM_011530751.2:c.13053C>T	XP_011529053.1:p.Tyr4351=
XM_017029191.1:c.13185C>T	XP_016884680.1:p.Tyr4395=
XM_017029192.1:c.13182C>T	XP_016884681.1:p.Tyr4394=
XM_017029193.1:c.13164C>T	XP_016884682.1:p.Tyr4388=
XM_017029194.1:c.13140C>T	XP_016884683.1:p.Tyr4380=
XM_017029195.1:c.13137C>T	XP_016884684.1:p.Tyr4379=
XM_017029196.1:c.13134C>T	XP_016884685.1:p.Tyr4378=
XM_017029197.1:c.13086C>T	XP_016884686.1:p.Tyr4362=
XM_017029198.2:c.13074C>T	XP_016884687.1:p.Tyr4358=
XM_017029199.1:c.13074C>T	XP_016884688.1:p.Tyr4358=
XM_017029200.1:c.13074C>T	XP_016884689.1:p.Tyr4358=
XM_017029201.1:c.13074C>T	XP_016884690.1:p.Tyr4358=
XM_017029202.1:c.13074C>T	XP_016884691.1:p.Tyr4358=
XM_017029203.1:c.13074C>T	XP_016884692.1:p.Tyr4358=
XM_017029204.1:c.12936C>T	XP_016884693.1:p.Tyr4312=
XM_017029206.1:c.12783C>T	XP_016884695.1:p.Tyr4261=
XM_024452322.1:c.13053C>T	XP_024308090.1:p.Tyr4351=
NM_031407.7:c.12804C>T MANE Select	NP_113584.3:p.Tyr4268=