Canonical Allele Identifier: CA413145900

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561502T>A (hg19) ; chrX:g.53534541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534541T>A , CM000685.2:g.53534541T>A	GRCh38
NC_000023.10:g.53561502T>A , CM000685.1:g.53561502T>A	GRCh37
NC_000023.9:g.53578227T>A	NCBI36
NG_016261.2:g.157193A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12590A>T	ENSP00000515693.1:p.His4197Leu
ENST00000262854.11:c.12806A>T MANE Select	ENSP00000262854.6:p.His4269Leu
ENST00000262854.10:c.12806A>T	ENSP00000262854.6:p.His4269Leu
ENST00000342160.7:c.12806A>T	ENSP00000340648.3:p.His4269Leu
ENST00000426907.5:c.3273A>T
ENST00000488459.1:n.119A>T
ENST00000612484.4:c.12779A>T	ENSP00000479451.1:p.His4260Leu
NM_031407.6:c.12806A>T	NP_113584.3:p.His4269Leu
XM_005261965.2:c.12806A>T	XP_005262022.1:p.His4269Leu
XM_011530746.1:c.13055A>T	XP_011529048.1:p.His4352Leu
XM_011530747.1:c.13055A>T	XP_011529049.1:p.His4352Leu
XM_011530748.1:c.13055A>T	XP_011529050.1:p.His4352Leu
XM_011530749.1:c.13055A>T	XP_011529051.1:p.His4352Leu
XM_011530750.1:c.13055A>T	XP_011529052.1:p.His4352Leu
XM_011530751.1:c.13055A>T	XP_011529053.1:p.His4352Leu
XM_011530752.1:c.13052A>T	XP_011529054.1:p.His4351Leu
XM_011530753.1:c.13010A>T	XP_011529055.1:p.His4337Leu
XM_011530754.1:c.13007A>T	XP_011529056.1:p.His4336Leu
XM_011530755.1:c.13004A>T	XP_011529057.1:p.His4335Leu
XM_011530756.1:c.12956A>T	XP_011529058.1:p.His4319Leu
XM_011530757.1:c.12653A>T	XP_011529059.1:p.His4218Leu
XM_005261965.4:c.12806A>T	XP_005262022.1:p.His4269Leu
XM_011530751.2:c.13055A>T	XP_011529053.1:p.His4352Leu
XM_017029191.1:c.13187A>T	XP_016884680.1:p.His4396Leu
XM_017029192.1:c.13184A>T	XP_016884681.1:p.His4395Leu
XM_017029193.1:c.13166A>T	XP_016884682.1:p.His4389Leu
XM_017029194.1:c.13142A>T	XP_016884683.1:p.His4381Leu
XM_017029195.1:c.13139A>T	XP_016884684.1:p.His4380Leu
XM_017029196.1:c.13136A>T	XP_016884685.1:p.His4379Leu
XM_017029197.1:c.13088A>T	XP_016884686.1:p.His4363Leu
XM_017029198.2:c.13076A>T	XP_016884687.1:p.His4359Leu
XM_017029199.1:c.13076A>T	XP_016884688.1:p.His4359Leu
XM_017029200.1:c.13076A>T	XP_016884689.1:p.His4359Leu
XM_017029201.1:c.13076A>T	XP_016884690.1:p.His4359Leu
XM_017029202.1:c.13076A>T	XP_016884691.1:p.His4359Leu
XM_017029203.1:c.13076A>T	XP_016884692.1:p.His4359Leu
XM_017029204.1:c.12938A>T	XP_016884693.1:p.His4313Leu
XM_017029206.1:c.12785A>T	XP_016884695.1:p.His4262Leu
XM_024452322.1:c.13055A>T	XP_024308090.1:p.His4352Leu
NM_031407.7:c.12806A>T MANE Select	NP_113584.3:p.His4269Leu