Canonical Allele Identifier: CA413143499

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560972T>G (hg19) ; chrX:g.53534011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534011T>G , CM000685.2:g.53534011T>G	GRCh38
NC_000023.10:g.53560972T>G , CM000685.1:g.53560972T>G	GRCh37
NC_000023.9:g.53577697T>G	NCBI36
NG_016261.2:g.157723A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12802A>C	ENSP00000515693.1:p.Thr4268Pro
ENST00000262854.11:c.13018A>C MANE Select	ENSP00000262854.6:p.Thr4340Pro
ENST00000262854.10:c.13018A>C	ENSP00000262854.6:p.Thr4340Pro
ENST00000342160.7:c.13018A>C	ENSP00000340648.3:p.Thr4340Pro
ENST00000426907.5:c.3485A>C
ENST00000488459.1:n.331A>C
ENST00000612484.4:c.12991A>C	ENSP00000479451.1:p.Thr4331Pro
NM_031407.6:c.13018A>C	NP_113584.3:p.Thr4340Pro
XM_005261965.2:c.13018A>C	XP_005262022.1:p.Thr4340Pro
XM_011530746.1:c.13267A>C	XP_011529048.1:p.Thr4423Pro
XM_011530747.1:c.13267A>C	XP_011529049.1:p.Thr4423Pro
XM_011530748.1:c.13267A>C	XP_011529050.1:p.Thr4423Pro
XM_011530749.1:c.13267A>C	XP_011529051.1:p.Thr4423Pro
XM_011530750.1:c.13267A>C	XP_011529052.1:p.Thr4423Pro
XM_011530751.1:c.13267A>C	XP_011529053.1:p.Thr4423Pro
XM_011530752.1:c.13264A>C	XP_011529054.1:p.Thr4422Pro
XM_011530753.1:c.13222A>C	XP_011529055.1:p.Thr4408Pro
XM_011530754.1:c.13219A>C	XP_011529056.1:p.Thr4407Pro
XM_011530755.1:c.13216A>C	XP_011529057.1:p.Thr4406Pro
XM_011530756.1:c.13168A>C	XP_011529058.1:p.Thr4390Pro
XM_011530757.1:c.12865A>C	XP_011529059.1:p.Thr4289Pro
XM_005261965.4:c.13018A>C	XP_005262022.1:p.Thr4340Pro
XM_011530751.2:c.13267A>C	XP_011529053.1:p.Thr4423Pro
XM_017029191.1:c.13399A>C	XP_016884680.1:p.Thr4467Pro
XM_017029192.1:c.13396A>C	XP_016884681.1:p.Thr4466Pro
XM_017029193.1:c.13378A>C	XP_016884682.1:p.Thr4460Pro
XM_017029194.1:c.13354A>C	XP_016884683.1:p.Thr4452Pro
XM_017029195.1:c.13351A>C	XP_016884684.1:p.Thr4451Pro
XM_017029196.1:c.13348A>C	XP_016884685.1:p.Thr4450Pro
XM_017029197.1:c.13300A>C	XP_016884686.1:p.Thr4434Pro
XM_017029198.2:c.13288A>C	XP_016884687.1:p.Thr4430Pro
XM_017029199.1:c.13288A>C	XP_016884688.1:p.Thr4430Pro
XM_017029200.1:c.13288A>C	XP_016884689.1:p.Thr4430Pro
XM_017029201.1:c.13288A>C	XP_016884690.1:p.Thr4430Pro
XM_017029202.1:c.13288A>C	XP_016884691.1:p.Thr4430Pro
XM_017029203.1:c.13288A>C	XP_016884692.1:p.Thr4430Pro
XM_017029204.1:c.13150A>C	XP_016884693.1:p.Thr4384Pro
XM_017029206.1:c.12997A>C	XP_016884695.1:p.Thr4333Pro
XM_024452322.1:c.13267A>C	XP_024308090.1:p.Thr4423Pro
NM_031407.7:c.13018A>C MANE Select	NP_113584.3:p.Thr4340Pro