Canonical Allele Identifier: CA413155370

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564580T>A (hg19) ; chrX:g.53537619T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537619T>A , CM000685.2:g.53537619T>A	GRCh38
NC_000023.10:g.53564580T>A , CM000685.1:g.53564580T>A	GRCh37
NC_000023.9:g.53581305T>A	NCBI36
NG_016261.2:g.154115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11858A>T	ENSP00000515693.1:p.His3953Leu
ENST00000262854.11:c.12074A>T MANE Select	ENSP00000262854.6:p.His4025Leu
ENST00000262854.10:c.12074A>T	ENSP00000262854.6:p.His4025Leu
ENST00000342160.7:c.12074A>T	ENSP00000340648.3:p.His4025Leu
ENST00000426907.5:c.2541A>T
ENST00000480438.1:n.209A>T
ENST00000612484.4:c.12047A>T	ENSP00000479451.1:p.His4016Leu
NM_031407.6:c.12074A>T	NP_113584.3:p.His4025Leu
XM_005261965.2:c.12074A>T	XP_005262022.1:p.His4025Leu
XM_011530746.1:c.12323A>T	XP_011529048.1:p.His4108Leu
XM_011530747.1:c.12323A>T	XP_011529049.1:p.His4108Leu
XM_011530748.1:c.12323A>T	XP_011529050.1:p.His4108Leu
XM_011530749.1:c.12323A>T	XP_011529051.1:p.His4108Leu
XM_011530750.1:c.12323A>T	XP_011529052.1:p.His4108Leu
XM_011530751.1:c.12323A>T	XP_011529053.1:p.His4108Leu
XM_011530752.1:c.12320A>T	XP_011529054.1:p.His4107Leu
XM_011530753.1:c.12278A>T	XP_011529055.1:p.His4093Leu
XM_011530754.1:c.12275A>T	XP_011529056.1:p.His4092Leu
XM_011530755.1:c.12272A>T	XP_011529057.1:p.His4091Leu
XM_011530756.1:c.12224A>T	XP_011529058.1:p.His4075Leu
XM_011530757.1:c.11921A>T	XP_011529059.1:p.His3974Leu
XM_005261965.4:c.12074A>T	XP_005262022.1:p.His4025Leu
XM_011530751.2:c.12323A>T	XP_011529053.1:p.His4108Leu
XM_017029191.1:c.12455A>T	XP_016884680.1:p.His4152Leu
XM_017029192.1:c.12452A>T	XP_016884681.1:p.His4151Leu
XM_017029193.1:c.12434A>T	XP_016884682.1:p.His4145Leu
XM_017029194.1:c.12410A>T	XP_016884683.1:p.His4137Leu
XM_017029195.1:c.12407A>T	XP_016884684.1:p.His4136Leu
XM_017029196.1:c.12404A>T	XP_016884685.1:p.His4135Leu
XM_017029197.1:c.12356A>T	XP_016884686.1:p.His4119Leu
XM_017029198.2:c.12344A>T	XP_016884687.1:p.His4115Leu
XM_017029199.1:c.12344A>T	XP_016884688.1:p.His4115Leu
XM_017029200.1:c.12344A>T	XP_016884689.1:p.His4115Leu
XM_017029201.1:c.12344A>T	XP_016884690.1:p.His4115Leu
XM_017029202.1:c.12344A>T	XP_016884691.1:p.His4115Leu
XM_017029203.1:c.12344A>T	XP_016884692.1:p.His4115Leu
XM_017029204.1:c.12206A>T	XP_016884693.1:p.His4069Leu
XM_017029206.1:c.12053A>T	XP_016884695.1:p.His4018Leu
XM_024452322.1:c.12323A>T	XP_024308090.1:p.His4108Leu
NM_031407.7:c.12074A>T MANE Select	NP_113584.3:p.His4025Leu