Canonical Allele Identifier: CA413146003

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561511G>A (hg19) ; chrX:g.53534550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534550G>A , CM000685.2:g.53534550G>A	GRCh38
NC_000023.10:g.53561511G>A , CM000685.1:g.53561511G>A	GRCh37
NC_000023.9:g.53578236G>A	NCBI36
NG_016261.2:g.157184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12581C>T	ENSP00000515693.1:p.Thr4194Ile
ENST00000262854.11:c.12797C>T MANE Select	ENSP00000262854.6:p.Thr4266Ile
ENST00000262854.10:c.12797C>T	ENSP00000262854.6:p.Thr4266Ile
ENST00000342160.7:c.12797C>T	ENSP00000340648.3:p.Thr4266Ile
ENST00000426907.5:c.3264C>T
ENST00000488459.1:n.110C>T
ENST00000612484.4:c.12770C>T	ENSP00000479451.1:p.Thr4257Ile
NM_031407.6:c.12797C>T	NP_113584.3:p.Thr4266Ile
XM_005261965.2:c.12797C>T	XP_005262022.1:p.Thr4266Ile
XM_011530746.1:c.13046C>T	XP_011529048.1:p.Thr4349Ile
XM_011530747.1:c.13046C>T	XP_011529049.1:p.Thr4349Ile
XM_011530748.1:c.13046C>T	XP_011529050.1:p.Thr4349Ile
XM_011530749.1:c.13046C>T	XP_011529051.1:p.Thr4349Ile
XM_011530750.1:c.13046C>T	XP_011529052.1:p.Thr4349Ile
XM_011530751.1:c.13046C>T	XP_011529053.1:p.Thr4349Ile
XM_011530752.1:c.13043C>T	XP_011529054.1:p.Thr4348Ile
XM_011530753.1:c.13001C>T	XP_011529055.1:p.Thr4334Ile
XM_011530754.1:c.12998C>T	XP_011529056.1:p.Thr4333Ile
XM_011530755.1:c.12995C>T	XP_011529057.1:p.Thr4332Ile
XM_011530756.1:c.12947C>T	XP_011529058.1:p.Thr4316Ile
XM_011530757.1:c.12644C>T	XP_011529059.1:p.Thr4215Ile
XM_005261965.4:c.12797C>T	XP_005262022.1:p.Thr4266Ile
XM_011530751.2:c.13046C>T	XP_011529053.1:p.Thr4349Ile
XM_017029191.1:c.13178C>T	XP_016884680.1:p.Thr4393Ile
XM_017029192.1:c.13175C>T	XP_016884681.1:p.Thr4392Ile
XM_017029193.1:c.13157C>T	XP_016884682.1:p.Thr4386Ile
XM_017029194.1:c.13133C>T	XP_016884683.1:p.Thr4378Ile
XM_017029195.1:c.13130C>T	XP_016884684.1:p.Thr4377Ile
XM_017029196.1:c.13127C>T	XP_016884685.1:p.Thr4376Ile
XM_017029197.1:c.13079C>T	XP_016884686.1:p.Thr4360Ile
XM_017029198.2:c.13067C>T	XP_016884687.1:p.Thr4356Ile
XM_017029199.1:c.13067C>T	XP_016884688.1:p.Thr4356Ile
XM_017029200.1:c.13067C>T	XP_016884689.1:p.Thr4356Ile
XM_017029201.1:c.13067C>T	XP_016884690.1:p.Thr4356Ile
XM_017029202.1:c.13067C>T	XP_016884691.1:p.Thr4356Ile
XM_017029203.1:c.13067C>T	XP_016884692.1:p.Thr4356Ile
XM_017029204.1:c.12929C>T	XP_016884693.1:p.Thr4310Ile
XM_017029206.1:c.12776C>T	XP_016884695.1:p.Thr4259Ile
XM_024452322.1:c.13046C>T	XP_024308090.1:p.Thr4349Ile
NM_031407.7:c.12797C>T MANE Select	NP_113584.3:p.Thr4266Ile