Canonical Allele Identifier: CA413147004

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561634G>A (hg19) ; chrX:g.53534673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534673G>A , CM000685.2:g.53534673G>A	GRCh38
NC_000023.10:g.53561634G>A , CM000685.1:g.53561634G>A	GRCh37
NC_000023.9:g.53578359G>A	NCBI36
NG_016261.2:g.157061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12458C>T	ENSP00000515693.1:p.Ala4153Val
ENST00000262854.11:c.12674C>T MANE Select	ENSP00000262854.6:p.Ala4225Val
ENST00000262854.10:c.12674C>T	ENSP00000262854.6:p.Ala4225Val
ENST00000342160.7:c.12674C>T	ENSP00000340648.3:p.Ala4225Val
ENST00000426907.5:c.3141C>T
ENST00000612484.4:c.12647C>T	ENSP00000479451.1:p.Ala4216Val
NM_031407.6:c.12674C>T	NP_113584.3:p.Ala4225Val
XM_005261965.2:c.12674C>T	XP_005262022.1:p.Ala4225Val
XM_011530746.1:c.12923C>T	XP_011529048.1:p.Ala4308Val
XM_011530747.1:c.12923C>T	XP_011529049.1:p.Ala4308Val
XM_011530748.1:c.12923C>T	XP_011529050.1:p.Ala4308Val
XM_011530749.1:c.12923C>T	XP_011529051.1:p.Ala4308Val
XM_011530750.1:c.12923C>T	XP_011529052.1:p.Ala4308Val
XM_011530751.1:c.12923C>T	XP_011529053.1:p.Ala4308Val
XM_011530752.1:c.12920C>T	XP_011529054.1:p.Ala4307Val
XM_011530753.1:c.12878C>T	XP_011529055.1:p.Ala4293Val
XM_011530754.1:c.12875C>T	XP_011529056.1:p.Ala4292Val
XM_011530755.1:c.12872C>T	XP_011529057.1:p.Ala4291Val
XM_011530756.1:c.12824C>T	XP_011529058.1:p.Ala4275Val
XM_011530757.1:c.12521C>T	XP_011529059.1:p.Ala4174Val
XM_005261965.4:c.12674C>T	XP_005262022.1:p.Ala4225Val
XM_011530751.2:c.12923C>T	XP_011529053.1:p.Ala4308Val
XM_017029191.1:c.13055C>T	XP_016884680.1:p.Ala4352Val
XM_017029192.1:c.13052C>T	XP_016884681.1:p.Ala4351Val
XM_017029193.1:c.13034C>T	XP_016884682.1:p.Ala4345Val
XM_017029194.1:c.13010C>T	XP_016884683.1:p.Ala4337Val
XM_017029195.1:c.13007C>T	XP_016884684.1:p.Ala4336Val
XM_017029196.1:c.13004C>T	XP_016884685.1:p.Ala4335Val
XM_017029197.1:c.12956C>T	XP_016884686.1:p.Ala4319Val
XM_017029198.2:c.12944C>T	XP_016884687.1:p.Ala4315Val
XM_017029199.1:c.12944C>T	XP_016884688.1:p.Ala4315Val
XM_017029200.1:c.12944C>T	XP_016884689.1:p.Ala4315Val
XM_017029201.1:c.12944C>T	XP_016884690.1:p.Ala4315Val
XM_017029202.1:c.12944C>T	XP_016884691.1:p.Ala4315Val
XM_017029203.1:c.12944C>T	XP_016884692.1:p.Ala4315Val
XM_017029204.1:c.12806C>T	XP_016884693.1:p.Ala4269Val
XM_017029206.1:c.12653C>T	XP_016884695.1:p.Ala4218Val
XM_024452322.1:c.12923C>T	XP_024308090.1:p.Ala4308Val
NM_031407.7:c.12674C>T MANE Select	NP_113584.3:p.Ala4225Val