Canonical Allele Identifier: CA413144969

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 521696
• ClinVar RCV Id: RCV000624911
• dbSNP Id: rs1556909408
• MyVariant Identifiers: chrX:g.53561110C>T (hg19) ; chrX:g.53534149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534149C>T , CM000685.2:g.53534149C>T	GRCh38
NC_000023.10:g.53561110C>T , CM000685.1:g.53561110C>T	GRCh37
NC_000023.9:g.53577835C>T	NCBI36
NG_016261.2:g.157585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12664G>A	ENSP00000515693.1:p.Ala4222Thr
ENST00000262854.11:c.12880G>A MANE Select	ENSP00000262854.6:p.Ala4294Thr
ENST00000262854.10:c.12880G>A	ENSP00000262854.6:p.Ala4294Thr
ENST00000342160.7:c.12880G>A	ENSP00000340648.3:p.Ala4294Thr
ENST00000426907.5:c.3347G>A
ENST00000488459.1:n.193G>A
ENST00000612484.4:c.12853G>A	ENSP00000479451.1:p.Ala4285Thr
NM_031407.6:c.12880G>A	NP_113584.3:p.Ala4294Thr
XM_005261965.2:c.12880G>A	XP_005262022.1:p.Ala4294Thr
XM_011530746.1:c.13129G>A	XP_011529048.1:p.Ala4377Thr
XM_011530747.1:c.13129G>A	XP_011529049.1:p.Ala4377Thr
XM_011530748.1:c.13129G>A	XP_011529050.1:p.Ala4377Thr
XM_011530749.1:c.13129G>A	XP_011529051.1:p.Ala4377Thr
XM_011530750.1:c.13129G>A	XP_011529052.1:p.Ala4377Thr
XM_011530751.1:c.13129G>A	XP_011529053.1:p.Ala4377Thr
XM_011530752.1:c.13126G>A	XP_011529054.1:p.Ala4376Thr
XM_011530753.1:c.13084G>A	XP_011529055.1:p.Ala4362Thr
XM_011530754.1:c.13081G>A	XP_011529056.1:p.Ala4361Thr
XM_011530755.1:c.13078G>A	XP_011529057.1:p.Ala4360Thr
XM_011530756.1:c.13030G>A	XP_011529058.1:p.Ala4344Thr
XM_011530757.1:c.12727G>A	XP_011529059.1:p.Ala4243Thr
XM_005261965.4:c.12880G>A	XP_005262022.1:p.Ala4294Thr
XM_011530751.2:c.13129G>A	XP_011529053.1:p.Ala4377Thr
XM_017029191.1:c.13261G>A	XP_016884680.1:p.Ala4421Thr
XM_017029192.1:c.13258G>A	XP_016884681.1:p.Ala4420Thr
XM_017029193.1:c.13240G>A	XP_016884682.1:p.Ala4414Thr
XM_017029194.1:c.13216G>A	XP_016884683.1:p.Ala4406Thr
XM_017029195.1:c.13213G>A	XP_016884684.1:p.Ala4405Thr
XM_017029196.1:c.13210G>A	XP_016884685.1:p.Ala4404Thr
XM_017029197.1:c.13162G>A	XP_016884686.1:p.Ala4388Thr
XM_017029198.2:c.13150G>A	XP_016884687.1:p.Ala4384Thr
XM_017029199.1:c.13150G>A	XP_016884688.1:p.Ala4384Thr
XM_017029200.1:c.13150G>A	XP_016884689.1:p.Ala4384Thr
XM_017029201.1:c.13150G>A	XP_016884690.1:p.Ala4384Thr
XM_017029202.1:c.13150G>A	XP_016884691.1:p.Ala4384Thr
XM_017029203.1:c.13150G>A	XP_016884692.1:p.Ala4384Thr
XM_017029204.1:c.13012G>A	XP_016884693.1:p.Ala4338Thr
XM_017029206.1:c.12859G>A	XP_016884695.1:p.Ala4287Thr
XM_024452322.1:c.13129G>A	XP_024308090.1:p.Ala4377Thr
NM_031407.7:c.12880G>A MANE Select	NP_113584.3:p.Ala4294Thr