Canonical Allele Identifier: CA413147050

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561641A>T (hg19) ; chrX:g.53534680A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534680A>T , CM000685.2:g.53534680A>T	GRCh38
NC_000023.10:g.53561641A>T , CM000685.1:g.53561641A>T	GRCh37
NC_000023.9:g.53578366A>T	NCBI36
NG_016261.2:g.157054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12451T>A	ENSP00000515693.1:p.Leu4151Met
ENST00000262854.11:c.12667T>A MANE Select	ENSP00000262854.6:p.Leu4223Met
ENST00000262854.10:c.12667T>A	ENSP00000262854.6:p.Leu4223Met
ENST00000342160.7:c.12667T>A	ENSP00000340648.3:p.Leu4223Met
ENST00000426907.5:c.3134T>A
ENST00000612484.4:c.12640T>A	ENSP00000479451.1:p.Leu4214Met
NM_031407.6:c.12667T>A	NP_113584.3:p.Leu4223Met
XM_005261965.2:c.12667T>A	XP_005262022.1:p.Leu4223Met
XM_011530746.1:c.12916T>A	XP_011529048.1:p.Leu4306Met
XM_011530747.1:c.12916T>A	XP_011529049.1:p.Leu4306Met
XM_011530748.1:c.12916T>A	XP_011529050.1:p.Leu4306Met
XM_011530749.1:c.12916T>A	XP_011529051.1:p.Leu4306Met
XM_011530750.1:c.12916T>A	XP_011529052.1:p.Leu4306Met
XM_011530751.1:c.12916T>A	XP_011529053.1:p.Leu4306Met
XM_011530752.1:c.12913T>A	XP_011529054.1:p.Leu4305Met
XM_011530753.1:c.12871T>A	XP_011529055.1:p.Leu4291Met
XM_011530754.1:c.12868T>A	XP_011529056.1:p.Leu4290Met
XM_011530755.1:c.12865T>A	XP_011529057.1:p.Leu4289Met
XM_011530756.1:c.12817T>A	XP_011529058.1:p.Leu4273Met
XM_011530757.1:c.12514T>A	XP_011529059.1:p.Leu4172Met
XM_005261965.4:c.12667T>A	XP_005262022.1:p.Leu4223Met
XM_011530751.2:c.12916T>A	XP_011529053.1:p.Leu4306Met
XM_017029191.1:c.13048T>A	XP_016884680.1:p.Leu4350Met
XM_017029192.1:c.13045T>A	XP_016884681.1:p.Leu4349Met
XM_017029193.1:c.13027T>A	XP_016884682.1:p.Leu4343Met
XM_017029194.1:c.13003T>A	XP_016884683.1:p.Leu4335Met
XM_017029195.1:c.13000T>A	XP_016884684.1:p.Leu4334Met
XM_017029196.1:c.12997T>A	XP_016884685.1:p.Leu4333Met
XM_017029197.1:c.12949T>A	XP_016884686.1:p.Leu4317Met
XM_017029198.2:c.12937T>A	XP_016884687.1:p.Leu4313Met
XM_017029199.1:c.12937T>A	XP_016884688.1:p.Leu4313Met
XM_017029200.1:c.12937T>A	XP_016884689.1:p.Leu4313Met
XM_017029201.1:c.12937T>A	XP_016884690.1:p.Leu4313Met
XM_017029202.1:c.12937T>A	XP_016884691.1:p.Leu4313Met
XM_017029203.1:c.12937T>A	XP_016884692.1:p.Leu4313Met
XM_017029204.1:c.12799T>A	XP_016884693.1:p.Leu4267Met
XM_017029206.1:c.12646T>A	XP_016884695.1:p.Leu4216Met
XM_024452322.1:c.12916T>A	XP_024308090.1:p.Leu4306Met
NM_031407.7:c.12667T>A MANE Select	NP_113584.3:p.Leu4223Met