Canonical Allele Identifier: CA413145914

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561503G>A (hg19) ; chrX:g.53534542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534542G>A , CM000685.2:g.53534542G>A	GRCh38
NC_000023.10:g.53561503G>A , CM000685.1:g.53561503G>A	GRCh37
NC_000023.9:g.53578228G>A	NCBI36
NG_016261.2:g.157192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12589C>T	ENSP00000515693.1:p.His4197Tyr
ENST00000262854.11:c.12805C>T MANE Select	ENSP00000262854.6:p.His4269Tyr
ENST00000262854.10:c.12805C>T	ENSP00000262854.6:p.His4269Tyr
ENST00000342160.7:c.12805C>T	ENSP00000340648.3:p.His4269Tyr
ENST00000426907.5:c.3272C>T
ENST00000488459.1:n.118C>T
ENST00000612484.4:c.12778C>T	ENSP00000479451.1:p.His4260Tyr
NM_031407.6:c.12805C>T	NP_113584.3:p.His4269Tyr
XM_005261965.2:c.12805C>T	XP_005262022.1:p.His4269Tyr
XM_011530746.1:c.13054C>T	XP_011529048.1:p.His4352Tyr
XM_011530747.1:c.13054C>T	XP_011529049.1:p.His4352Tyr
XM_011530748.1:c.13054C>T	XP_011529050.1:p.His4352Tyr
XM_011530749.1:c.13054C>T	XP_011529051.1:p.His4352Tyr
XM_011530750.1:c.13054C>T	XP_011529052.1:p.His4352Tyr
XM_011530751.1:c.13054C>T	XP_011529053.1:p.His4352Tyr
XM_011530752.1:c.13051C>T	XP_011529054.1:p.His4351Tyr
XM_011530753.1:c.13009C>T	XP_011529055.1:p.His4337Tyr
XM_011530754.1:c.13006C>T	XP_011529056.1:p.His4336Tyr
XM_011530755.1:c.13003C>T	XP_011529057.1:p.His4335Tyr
XM_011530756.1:c.12955C>T	XP_011529058.1:p.His4319Tyr
XM_011530757.1:c.12652C>T	XP_011529059.1:p.His4218Tyr
XM_005261965.4:c.12805C>T	XP_005262022.1:p.His4269Tyr
XM_011530751.2:c.13054C>T	XP_011529053.1:p.His4352Tyr
XM_017029191.1:c.13186C>T	XP_016884680.1:p.His4396Tyr
XM_017029192.1:c.13183C>T	XP_016884681.1:p.His4395Tyr
XM_017029193.1:c.13165C>T	XP_016884682.1:p.His4389Tyr
XM_017029194.1:c.13141C>T	XP_016884683.1:p.His4381Tyr
XM_017029195.1:c.13138C>T	XP_016884684.1:p.His4380Tyr
XM_017029196.1:c.13135C>T	XP_016884685.1:p.His4379Tyr
XM_017029197.1:c.13087C>T	XP_016884686.1:p.His4363Tyr
XM_017029198.2:c.13075C>T	XP_016884687.1:p.His4359Tyr
XM_017029199.1:c.13075C>T	XP_016884688.1:p.His4359Tyr
XM_017029200.1:c.13075C>T	XP_016884689.1:p.His4359Tyr
XM_017029201.1:c.13075C>T	XP_016884690.1:p.His4359Tyr
XM_017029202.1:c.13075C>T	XP_016884691.1:p.His4359Tyr
XM_017029203.1:c.13075C>T	XP_016884692.1:p.His4359Tyr
XM_017029204.1:c.12937C>T	XP_016884693.1:p.His4313Tyr
XM_017029206.1:c.12784C>T	XP_016884695.1:p.His4262Tyr
XM_024452322.1:c.13054C>T	XP_024308090.1:p.His4352Tyr
NM_031407.7:c.12805C>T MANE Select	NP_113584.3:p.His4269Tyr