Canonical Allele Identifier: CA413145838

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561492C>A (hg19) ; chrX:g.53534531C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534531C>A , CM000685.2:g.53534531C>A	GRCh38
NC_000023.10:g.53561492C>A , CM000685.1:g.53561492C>A	GRCh37
NC_000023.9:g.53578217C>A	NCBI36
NG_016261.2:g.157203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12600G>T	ENSP00000515693.1:p.Gln4200His
ENST00000262854.11:c.12816G>T MANE Select	ENSP00000262854.6:p.Gln4272His
ENST00000262854.10:c.12816G>T	ENSP00000262854.6:p.Gln4272His
ENST00000342160.7:c.12816G>T	ENSP00000340648.3:p.Gln4272His
ENST00000426907.5:c.3283G>T
ENST00000488459.1:n.129G>T
ENST00000612484.4:c.12789G>T	ENSP00000479451.1:p.Gln4263His
NM_031407.6:c.12816G>T	NP_113584.3:p.Gln4272His
XM_005261965.2:c.12816G>T	XP_005262022.1:p.Gln4272His
XM_011530746.1:c.13065G>T	XP_011529048.1:p.Gln4355His
XM_011530747.1:c.13065G>T	XP_011529049.1:p.Gln4355His
XM_011530748.1:c.13065G>T	XP_011529050.1:p.Gln4355His
XM_011530749.1:c.13065G>T	XP_011529051.1:p.Gln4355His
XM_011530750.1:c.13065G>T	XP_011529052.1:p.Gln4355His
XM_011530751.1:c.13065G>T	XP_011529053.1:p.Gln4355His
XM_011530752.1:c.13062G>T	XP_011529054.1:p.Gln4354His
XM_011530753.1:c.13020G>T	XP_011529055.1:p.Gln4340His
XM_011530754.1:c.13017G>T	XP_011529056.1:p.Gln4339His
XM_011530755.1:c.13014G>T	XP_011529057.1:p.Gln4338His
XM_011530756.1:c.12966G>T	XP_011529058.1:p.Gln4322His
XM_011530757.1:c.12663G>T	XP_011529059.1:p.Gln4221His
XM_005261965.4:c.12816G>T	XP_005262022.1:p.Gln4272His
XM_011530751.2:c.13065G>T	XP_011529053.1:p.Gln4355His
XM_017029191.1:c.13197G>T	XP_016884680.1:p.Gln4399His
XM_017029192.1:c.13194G>T	XP_016884681.1:p.Gln4398His
XM_017029193.1:c.13176G>T	XP_016884682.1:p.Gln4392His
XM_017029194.1:c.13152G>T	XP_016884683.1:p.Gln4384His
XM_017029195.1:c.13149G>T	XP_016884684.1:p.Gln4383His
XM_017029196.1:c.13146G>T	XP_016884685.1:p.Gln4382His
XM_017029197.1:c.13098G>T	XP_016884686.1:p.Gln4366His
XM_017029198.2:c.13086G>T	XP_016884687.1:p.Gln4362His
XM_017029199.1:c.13086G>T	XP_016884688.1:p.Gln4362His
XM_017029200.1:c.13086G>T	XP_016884689.1:p.Gln4362His
XM_017029201.1:c.13086G>T	XP_016884690.1:p.Gln4362His
XM_017029202.1:c.13086G>T	XP_016884691.1:p.Gln4362His
XM_017029203.1:c.13086G>T	XP_016884692.1:p.Gln4362His
XM_017029204.1:c.12948G>T	XP_016884693.1:p.Gln4316His
XM_017029206.1:c.12795G>T	XP_016884695.1:p.Gln4265His
XM_024452322.1:c.13065G>T	XP_024308090.1:p.Gln4355His
NM_031407.7:c.12816G>T MANE Select	NP_113584.3:p.Gln4272His