Canonical Allele Identifier: CA516419973

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561129A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534168A>T , CM000685.2:g.53534168A>T	GRCh38
NC_000023.10:g.53561129A>T , CM000685.1:g.53561129A>T	GRCh37
NC_000023.9:g.53577854A>T	NCBI36
NG_016261.2:g.157566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12645T>A	ENSP00000515693.1:p.Ser4215=
ENST00000262854.11:c.12861T>A MANE Select	ENSP00000262854.6:p.Ser4287=
ENST00000262854.10:c.12861T>A	ENSP00000262854.6:p.Ser4287=
ENST00000342160.7:c.12861T>A	ENSP00000340648.3:p.Ser4287=
ENST00000426907.5:c.3328T>A
ENST00000488459.1:n.174T>A
ENST00000612484.4:c.12834T>A	ENSP00000479451.1:p.Ser4278=
NM_031407.6:c.12861T>A	NP_113584.3:p.Ser4287=
XM_005261965.2:c.12861T>A	XP_005262022.1:p.Ser4287=
XM_011530746.1:c.13110T>A	XP_011529048.1:p.Ser4370=
XM_011530747.1:c.13110T>A	XP_011529049.1:p.Ser4370=
XM_011530748.1:c.13110T>A	XP_011529050.1:p.Ser4370=
XM_011530749.1:c.13110T>A	XP_011529051.1:p.Ser4370=
XM_011530750.1:c.13110T>A	XP_011529052.1:p.Ser4370=
XM_011530751.1:c.13110T>A	XP_011529053.1:p.Ser4370=
XM_011530752.1:c.13107T>A	XP_011529054.1:p.Ser4369=
XM_011530753.1:c.13065T>A	XP_011529055.1:p.Ser4355=
XM_011530754.1:c.13062T>A	XP_011529056.1:p.Ser4354=
XM_011530755.1:c.13059T>A	XP_011529057.1:p.Ser4353=
XM_011530756.1:c.13011T>A	XP_011529058.1:p.Ser4337=
XM_011530757.1:c.12708T>A	XP_011529059.1:p.Ser4236=
XM_005261965.4:c.12861T>A	XP_005262022.1:p.Ser4287=
XM_011530751.2:c.13110T>A	XP_011529053.1:p.Ser4370=
XM_017029191.1:c.13242T>A	XP_016884680.1:p.Ser4414=
XM_017029192.1:c.13239T>A	XP_016884681.1:p.Ser4413=
XM_017029193.1:c.13221T>A	XP_016884682.1:p.Ser4407=
XM_017029194.1:c.13197T>A	XP_016884683.1:p.Ser4399=
XM_017029195.1:c.13194T>A	XP_016884684.1:p.Ser4398=
XM_017029196.1:c.13191T>A	XP_016884685.1:p.Ser4397=
XM_017029197.1:c.13143T>A	XP_016884686.1:p.Ser4381=
XM_017029198.2:c.13131T>A	XP_016884687.1:p.Ser4377=
XM_017029199.1:c.13131T>A	XP_016884688.1:p.Ser4377=
XM_017029200.1:c.13131T>A	XP_016884689.1:p.Ser4377=
XM_017029201.1:c.13131T>A	XP_016884690.1:p.Ser4377=
XM_017029202.1:c.13131T>A	XP_016884691.1:p.Ser4377=
XM_017029203.1:c.13131T>A	XP_016884692.1:p.Ser4377=
XM_017029204.1:c.12993T>A	XP_016884693.1:p.Ser4331=
XM_017029206.1:c.12840T>A	XP_016884695.1:p.Ser4280=
XM_024452322.1:c.13110T>A	XP_024308090.1:p.Ser4370=
NM_031407.7:c.12861T>A MANE Select	NP_113584.3:p.Ser4287=