Canonical Allele Identifier: CA413156191

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564650G>T (hg19) ; chrX:g.53537689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537689G>T , CM000685.2:g.53537689G>T	GRCh38
NC_000023.10:g.53564650G>T , CM000685.1:g.53564650G>T	GRCh37
NC_000023.9:g.53581375G>T	NCBI36
NG_016261.2:g.154045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11788C>A	ENSP00000515693.1:p.Arg3930Ser
ENST00000262854.11:c.12004C>A MANE Select	ENSP00000262854.6:p.Arg4002Ser
ENST00000262854.10:c.12004C>A	ENSP00000262854.6:p.Arg4002Ser
ENST00000342160.7:c.12004C>A	ENSP00000340648.3:p.Arg4002Ser
ENST00000426907.5:c.2471C>A
ENST00000480438.1:n.139C>A
ENST00000612484.4:c.11977C>A	ENSP00000479451.1:p.Arg3993Ser
NM_031407.6:c.12004C>A	NP_113584.3:p.Arg4002Ser
XM_005261965.2:c.12004C>A	XP_005262022.1:p.Arg4002Ser
XM_011530746.1:c.12253C>A	XP_011529048.1:p.Arg4085Ser
XM_011530747.1:c.12253C>A	XP_011529049.1:p.Arg4085Ser
XM_011530748.1:c.12253C>A	XP_011529050.1:p.Arg4085Ser
XM_011530749.1:c.12253C>A	XP_011529051.1:p.Arg4085Ser
XM_011530750.1:c.12253C>A	XP_011529052.1:p.Arg4085Ser
XM_011530751.1:c.12253C>A	XP_011529053.1:p.Arg4085Ser
XM_011530752.1:c.12250C>A	XP_011529054.1:p.Arg4084Ser
XM_011530753.1:c.12208C>A	XP_011529055.1:p.Arg4070Ser
XM_011530754.1:c.12205C>A	XP_011529056.1:p.Arg4069Ser
XM_011530755.1:c.12202C>A	XP_011529057.1:p.Arg4068Ser
XM_011530756.1:c.12154C>A	XP_011529058.1:p.Arg4052Ser
XM_011530757.1:c.11851C>A	XP_011529059.1:p.Arg3951Ser
XM_005261965.4:c.12004C>A	XP_005262022.1:p.Arg4002Ser
XM_011530751.2:c.12253C>A	XP_011529053.1:p.Arg4085Ser
XM_017029191.1:c.12385C>A	XP_016884680.1:p.Arg4129Ser
XM_017029192.1:c.12382C>A	XP_016884681.1:p.Arg4128Ser
XM_017029193.1:c.12364C>A	XP_016884682.1:p.Arg4122Ser
XM_017029194.1:c.12340C>A	XP_016884683.1:p.Arg4114Ser
XM_017029195.1:c.12337C>A	XP_016884684.1:p.Arg4113Ser
XM_017029196.1:c.12334C>A	XP_016884685.1:p.Arg4112Ser
XM_017029197.1:c.12286C>A	XP_016884686.1:p.Arg4096Ser
XM_017029198.2:c.12274C>A	XP_016884687.1:p.Arg4092Ser
XM_017029199.1:c.12274C>A	XP_016884688.1:p.Arg4092Ser
XM_017029200.1:c.12274C>A	XP_016884689.1:p.Arg4092Ser
XM_017029201.1:c.12274C>A	XP_016884690.1:p.Arg4092Ser
XM_017029202.1:c.12274C>A	XP_016884691.1:p.Arg4092Ser
XM_017029203.1:c.12274C>A	XP_016884692.1:p.Arg4092Ser
XM_017029204.1:c.12136C>A	XP_016884693.1:p.Arg4046Ser
XM_017029206.1:c.11983C>A	XP_016884695.1:p.Arg3995Ser
XM_024452322.1:c.12253C>A	XP_024308090.1:p.Arg4085Ser
NM_031407.7:c.12004C>A MANE Select	NP_113584.3:p.Arg4002Ser