Canonical Allele Identifier: CA516423736

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564564G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537603G>T , CM000685.2:g.53537603G>T	GRCh38
NC_000023.10:g.53564564G>T , CM000685.1:g.53564564G>T	GRCh37
NC_000023.9:g.53581289G>T	NCBI36
NG_016261.2:g.154131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11874C>A	ENSP00000515693.1:p.Ser3958=
ENST00000262854.11:c.12090C>A MANE Select	ENSP00000262854.6:p.Ser4030=
ENST00000262854.10:c.12090C>A	ENSP00000262854.6:p.Ser4030=
ENST00000342160.7:c.12090C>A	ENSP00000340648.3:p.Ser4030=
ENST00000426907.5:c.2557C>A
ENST00000480438.1:n.225C>A
ENST00000612484.4:c.12063C>A	ENSP00000479451.1:p.Ser4021=
NM_031407.6:c.12090C>A	NP_113584.3:p.Ser4030=
XM_005261965.2:c.12090C>A	XP_005262022.1:p.Ser4030=
XM_011530746.1:c.12339C>A	XP_011529048.1:p.Ser4113=
XM_011530747.1:c.12339C>A	XP_011529049.1:p.Ser4113=
XM_011530748.1:c.12339C>A	XP_011529050.1:p.Ser4113=
XM_011530749.1:c.12339C>A	XP_011529051.1:p.Ser4113=
XM_011530750.1:c.12339C>A	XP_011529052.1:p.Ser4113=
XM_011530751.1:c.12339C>A	XP_011529053.1:p.Ser4113=
XM_011530752.1:c.12336C>A	XP_011529054.1:p.Ser4112=
XM_011530753.1:c.12294C>A	XP_011529055.1:p.Ser4098=
XM_011530754.1:c.12291C>A	XP_011529056.1:p.Ser4097=
XM_011530755.1:c.12288C>A	XP_011529057.1:p.Ser4096=
XM_011530756.1:c.12240C>A	XP_011529058.1:p.Ser4080=
XM_011530757.1:c.11937C>A	XP_011529059.1:p.Ser3979=
XM_005261965.4:c.12090C>A	XP_005262022.1:p.Ser4030=
XM_011530751.2:c.12339C>A	XP_011529053.1:p.Ser4113=
XM_017029191.1:c.12471C>A	XP_016884680.1:p.Ser4157=
XM_017029192.1:c.12468C>A	XP_016884681.1:p.Ser4156=
XM_017029193.1:c.12450C>A	XP_016884682.1:p.Ser4150=
XM_017029194.1:c.12426C>A	XP_016884683.1:p.Ser4142=
XM_017029195.1:c.12423C>A	XP_016884684.1:p.Ser4141=
XM_017029196.1:c.12420C>A	XP_016884685.1:p.Ser4140=
XM_017029197.1:c.12372C>A	XP_016884686.1:p.Ser4124=
XM_017029198.2:c.12360C>A	XP_016884687.1:p.Ser4120=
XM_017029199.1:c.12360C>A	XP_016884688.1:p.Ser4120=
XM_017029200.1:c.12360C>A	XP_016884689.1:p.Ser4120=
XM_017029201.1:c.12360C>A	XP_016884690.1:p.Ser4120=
XM_017029202.1:c.12360C>A	XP_016884691.1:p.Ser4120=
XM_017029203.1:c.12360C>A	XP_016884692.1:p.Ser4120=
XM_017029204.1:c.12222C>A	XP_016884693.1:p.Ser4074=
XM_017029206.1:c.12069C>A	XP_016884695.1:p.Ser4023=
XM_024452322.1:c.12339C>A	XP_024308090.1:p.Ser4113=
NM_031407.7:c.12090C>A MANE Select	NP_113584.3:p.Ser4030=