Canonical Allele Identifier: CA413146017

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561512T>A (hg19) ; chrX:g.53534551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534551T>A , CM000685.2:g.53534551T>A	GRCh38
NC_000023.10:g.53561512T>A , CM000685.1:g.53561512T>A	GRCh37
NC_000023.9:g.53578237T>A	NCBI36
NG_016261.2:g.157183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12580A>T	ENSP00000515693.1:p.Thr4194Ser
ENST00000262854.11:c.12796A>T MANE Select	ENSP00000262854.6:p.Thr4266Ser
ENST00000262854.10:c.12796A>T	ENSP00000262854.6:p.Thr4266Ser
ENST00000342160.7:c.12796A>T	ENSP00000340648.3:p.Thr4266Ser
ENST00000426907.5:c.3263A>T
ENST00000488459.1:n.109A>T
ENST00000612484.4:c.12769A>T	ENSP00000479451.1:p.Thr4257Ser
NM_031407.6:c.12796A>T	NP_113584.3:p.Thr4266Ser
XM_005261965.2:c.12796A>T	XP_005262022.1:p.Thr4266Ser
XM_011530746.1:c.13045A>T	XP_011529048.1:p.Thr4349Ser
XM_011530747.1:c.13045A>T	XP_011529049.1:p.Thr4349Ser
XM_011530748.1:c.13045A>T	XP_011529050.1:p.Thr4349Ser
XM_011530749.1:c.13045A>T	XP_011529051.1:p.Thr4349Ser
XM_011530750.1:c.13045A>T	XP_011529052.1:p.Thr4349Ser
XM_011530751.1:c.13045A>T	XP_011529053.1:p.Thr4349Ser
XM_011530752.1:c.13042A>T	XP_011529054.1:p.Thr4348Ser
XM_011530753.1:c.13000A>T	XP_011529055.1:p.Thr4334Ser
XM_011530754.1:c.12997A>T	XP_011529056.1:p.Thr4333Ser
XM_011530755.1:c.12994A>T	XP_011529057.1:p.Thr4332Ser
XM_011530756.1:c.12946A>T	XP_011529058.1:p.Thr4316Ser
XM_011530757.1:c.12643A>T	XP_011529059.1:p.Thr4215Ser
XM_005261965.4:c.12796A>T	XP_005262022.1:p.Thr4266Ser
XM_011530751.2:c.13045A>T	XP_011529053.1:p.Thr4349Ser
XM_017029191.1:c.13177A>T	XP_016884680.1:p.Thr4393Ser
XM_017029192.1:c.13174A>T	XP_016884681.1:p.Thr4392Ser
XM_017029193.1:c.13156A>T	XP_016884682.1:p.Thr4386Ser
XM_017029194.1:c.13132A>T	XP_016884683.1:p.Thr4378Ser
XM_017029195.1:c.13129A>T	XP_016884684.1:p.Thr4377Ser
XM_017029196.1:c.13126A>T	XP_016884685.1:p.Thr4376Ser
XM_017029197.1:c.13078A>T	XP_016884686.1:p.Thr4360Ser
XM_017029198.2:c.13066A>T	XP_016884687.1:p.Thr4356Ser
XM_017029199.1:c.13066A>T	XP_016884688.1:p.Thr4356Ser
XM_017029200.1:c.13066A>T	XP_016884689.1:p.Thr4356Ser
XM_017029201.1:c.13066A>T	XP_016884690.1:p.Thr4356Ser
XM_017029202.1:c.13066A>T	XP_016884691.1:p.Thr4356Ser
XM_017029203.1:c.13066A>T	XP_016884692.1:p.Thr4356Ser
XM_017029204.1:c.12928A>T	XP_016884693.1:p.Thr4310Ser
XM_017029206.1:c.12775A>T	XP_016884695.1:p.Thr4259Ser
XM_024452322.1:c.13045A>T	XP_024308090.1:p.Thr4349Ser
NM_031407.7:c.12796A>T MANE Select	NP_113584.3:p.Thr4266Ser