Canonical Allele Identifier: CA413146769

Gene: HUWE1

Linked Data

• dbSNP Id: rs1221866849
• MyVariant Identifiers: chrX:g.53561599G>T (hg19) ; chrX:g.53534638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534638G>T , CM000685.2:g.53534638G>T	GRCh38
NC_000023.10:g.53561599G>T , CM000685.1:g.53561599G>T	GRCh37
NC_000023.9:g.53578324G>T	NCBI36
NG_016261.2:g.157096C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12493C>A	ENSP00000515693.1:p.Arg4165Ser
ENST00000262854.11:c.12709C>A MANE Select	ENSP00000262854.6:p.Arg4237Ser
ENST00000262854.10:c.12709C>A	ENSP00000262854.6:p.Arg4237Ser
ENST00000342160.7:c.12709C>A	ENSP00000340648.3:p.Arg4237Ser
ENST00000426907.5:c.3176C>A
ENST00000488459.1:n.22C>A
ENST00000612484.4:c.12682C>A	ENSP00000479451.1:p.Arg4228Ser
NM_031407.6:c.12709C>A	NP_113584.3:p.Arg4237Ser
XM_005261965.2:c.12709C>A	XP_005262022.1:p.Arg4237Ser
XM_011530746.1:c.12958C>A	XP_011529048.1:p.Arg4320Ser
XM_011530747.1:c.12958C>A	XP_011529049.1:p.Arg4320Ser
XM_011530748.1:c.12958C>A	XP_011529050.1:p.Arg4320Ser
XM_011530749.1:c.12958C>A	XP_011529051.1:p.Arg4320Ser
XM_011530750.1:c.12958C>A	XP_011529052.1:p.Arg4320Ser
XM_011530751.1:c.12958C>A	XP_011529053.1:p.Arg4320Ser
XM_011530752.1:c.12955C>A	XP_011529054.1:p.Arg4319Ser
XM_011530753.1:c.12913C>A	XP_011529055.1:p.Arg4305Ser
XM_011530754.1:c.12910C>A	XP_011529056.1:p.Arg4304Ser
XM_011530755.1:c.12907C>A	XP_011529057.1:p.Arg4303Ser
XM_011530756.1:c.12859C>A	XP_011529058.1:p.Arg4287Ser
XM_011530757.1:c.12556C>A	XP_011529059.1:p.Arg4186Ser
XM_005261965.4:c.12709C>A	XP_005262022.1:p.Arg4237Ser
XM_011530751.2:c.12958C>A	XP_011529053.1:p.Arg4320Ser
XM_017029191.1:c.13090C>A	XP_016884680.1:p.Arg4364Ser
XM_017029192.1:c.13087C>A	XP_016884681.1:p.Arg4363Ser
XM_017029193.1:c.13069C>A	XP_016884682.1:p.Arg4357Ser
XM_017029194.1:c.13045C>A	XP_016884683.1:p.Arg4349Ser
XM_017029195.1:c.13042C>A	XP_016884684.1:p.Arg4348Ser
XM_017029196.1:c.13039C>A	XP_016884685.1:p.Arg4347Ser
XM_017029197.1:c.12991C>A	XP_016884686.1:p.Arg4331Ser
XM_017029198.2:c.12979C>A	XP_016884687.1:p.Arg4327Ser
XM_017029199.1:c.12979C>A	XP_016884688.1:p.Arg4327Ser
XM_017029200.1:c.12979C>A	XP_016884689.1:p.Arg4327Ser
XM_017029201.1:c.12979C>A	XP_016884690.1:p.Arg4327Ser
XM_017029202.1:c.12979C>A	XP_016884691.1:p.Arg4327Ser
XM_017029203.1:c.12979C>A	XP_016884692.1:p.Arg4327Ser
XM_017029204.1:c.12841C>A	XP_016884693.1:p.Arg4281Ser
XM_017029206.1:c.12688C>A	XP_016884695.1:p.Arg4230Ser
XM_024452322.1:c.12958C>A	XP_024308090.1:p.Arg4320Ser
NM_031407.7:c.12709C>A MANE Select	NP_113584.3:p.Arg4237Ser