Canonical Allele Identifier: CA516420202

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561486G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534525G>A , CM000685.2:g.53534525G>A	GRCh38
NC_000023.10:g.53561486G>A , CM000685.1:g.53561486G>A	GRCh37
NC_000023.9:g.53578211G>A	NCBI36
NG_016261.2:g.157209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12606C>T	ENSP00000515693.1:p.Asn4202=
ENST00000262854.11:c.12822C>T MANE Select	ENSP00000262854.6:p.Asn4274=
ENST00000262854.10:c.12822C>T	ENSP00000262854.6:p.Asn4274=
ENST00000342160.7:c.12822C>T	ENSP00000340648.3:p.Asn4274=
ENST00000426907.5:c.3289C>T
ENST00000488459.1:n.135C>T
ENST00000612484.4:c.12795C>T	ENSP00000479451.1:p.Asn4265=
NM_031407.6:c.12822C>T	NP_113584.3:p.Asn4274=
XM_005261965.2:c.12822C>T	XP_005262022.1:p.Asn4274=
XM_011530746.1:c.13071C>T	XP_011529048.1:p.Asn4357=
XM_011530747.1:c.13071C>T	XP_011529049.1:p.Asn4357=
XM_011530748.1:c.13071C>T	XP_011529050.1:p.Asn4357=
XM_011530749.1:c.13071C>T	XP_011529051.1:p.Asn4357=
XM_011530750.1:c.13071C>T	XP_011529052.1:p.Asn4357=
XM_011530751.1:c.13071C>T	XP_011529053.1:p.Asn4357=
XM_011530752.1:c.13068C>T	XP_011529054.1:p.Asn4356=
XM_011530753.1:c.13026C>T	XP_011529055.1:p.Asn4342=
XM_011530754.1:c.13023C>T	XP_011529056.1:p.Asn4341=
XM_011530755.1:c.13020C>T	XP_011529057.1:p.Asn4340=
XM_011530756.1:c.12972C>T	XP_011529058.1:p.Asn4324=
XM_011530757.1:c.12669C>T	XP_011529059.1:p.Asn4223=
XM_005261965.4:c.12822C>T	XP_005262022.1:p.Asn4274=
XM_011530751.2:c.13071C>T	XP_011529053.1:p.Asn4357=
XM_017029191.1:c.13203C>T	XP_016884680.1:p.Asn4401=
XM_017029192.1:c.13200C>T	XP_016884681.1:p.Asn4400=
XM_017029193.1:c.13182C>T	XP_016884682.1:p.Asn4394=
XM_017029194.1:c.13158C>T	XP_016884683.1:p.Asn4386=
XM_017029195.1:c.13155C>T	XP_016884684.1:p.Asn4385=
XM_017029196.1:c.13152C>T	XP_016884685.1:p.Asn4384=
XM_017029197.1:c.13104C>T	XP_016884686.1:p.Asn4368=
XM_017029198.2:c.13092C>T	XP_016884687.1:p.Asn4364=
XM_017029199.1:c.13092C>T	XP_016884688.1:p.Asn4364=
XM_017029200.1:c.13092C>T	XP_016884689.1:p.Asn4364=
XM_017029201.1:c.13092C>T	XP_016884690.1:p.Asn4364=
XM_017029202.1:c.13092C>T	XP_016884691.1:p.Asn4364=
XM_017029203.1:c.13092C>T	XP_016884692.1:p.Asn4364=
XM_017029204.1:c.12954C>T	XP_016884693.1:p.Asn4318=
XM_017029206.1:c.12801C>T	XP_016884695.1:p.Asn4267=
XM_024452322.1:c.13071C>T	XP_024308090.1:p.Asn4357=
NM_031407.7:c.12822C>T MANE Select	NP_113584.3:p.Asn4274=