Canonical Allele Identifier: CA413146041

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561514T>A (hg19) ; chrX:g.53534553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534553T>A , CM000685.2:g.53534553T>A	GRCh38
NC_000023.10:g.53561514T>A , CM000685.1:g.53561514T>A	GRCh37
NC_000023.9:g.53578239T>A	NCBI36
NG_016261.2:g.157181A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12578A>T	ENSP00000515693.1:p.Asn4193Ile
ENST00000262854.11:c.12794A>T MANE Select	ENSP00000262854.6:p.Asn4265Ile
ENST00000262854.10:c.12794A>T	ENSP00000262854.6:p.Asn4265Ile
ENST00000342160.7:c.12794A>T	ENSP00000340648.3:p.Asn4265Ile
ENST00000426907.5:c.3261A>T
ENST00000488459.1:n.107A>T
ENST00000612484.4:c.12767A>T	ENSP00000479451.1:p.Asn4256Ile
NM_031407.6:c.12794A>T	NP_113584.3:p.Asn4265Ile
XM_005261965.2:c.12794A>T	XP_005262022.1:p.Asn4265Ile
XM_011530746.1:c.13043A>T	XP_011529048.1:p.Asn4348Ile
XM_011530747.1:c.13043A>T	XP_011529049.1:p.Asn4348Ile
XM_011530748.1:c.13043A>T	XP_011529050.1:p.Asn4348Ile
XM_011530749.1:c.13043A>T	XP_011529051.1:p.Asn4348Ile
XM_011530750.1:c.13043A>T	XP_011529052.1:p.Asn4348Ile
XM_011530751.1:c.13043A>T	XP_011529053.1:p.Asn4348Ile
XM_011530752.1:c.13040A>T	XP_011529054.1:p.Asn4347Ile
XM_011530753.1:c.12998A>T	XP_011529055.1:p.Asn4333Ile
XM_011530754.1:c.12995A>T	XP_011529056.1:p.Asn4332Ile
XM_011530755.1:c.12992A>T	XP_011529057.1:p.Asn4331Ile
XM_011530756.1:c.12944A>T	XP_011529058.1:p.Asn4315Ile
XM_011530757.1:c.12641A>T	XP_011529059.1:p.Asn4214Ile
XM_005261965.4:c.12794A>T	XP_005262022.1:p.Asn4265Ile
XM_011530751.2:c.13043A>T	XP_011529053.1:p.Asn4348Ile
XM_017029191.1:c.13175A>T	XP_016884680.1:p.Asn4392Ile
XM_017029192.1:c.13172A>T	XP_016884681.1:p.Asn4391Ile
XM_017029193.1:c.13154A>T	XP_016884682.1:p.Asn4385Ile
XM_017029194.1:c.13130A>T	XP_016884683.1:p.Asn4377Ile
XM_017029195.1:c.13127A>T	XP_016884684.1:p.Asn4376Ile
XM_017029196.1:c.13124A>T	XP_016884685.1:p.Asn4375Ile
XM_017029197.1:c.13076A>T	XP_016884686.1:p.Asn4359Ile
XM_017029198.2:c.13064A>T	XP_016884687.1:p.Asn4355Ile
XM_017029199.1:c.13064A>T	XP_016884688.1:p.Asn4355Ile
XM_017029200.1:c.13064A>T	XP_016884689.1:p.Asn4355Ile
XM_017029201.1:c.13064A>T	XP_016884690.1:p.Asn4355Ile
XM_017029202.1:c.13064A>T	XP_016884691.1:p.Asn4355Ile
XM_017029203.1:c.13064A>T	XP_016884692.1:p.Asn4355Ile
XM_017029204.1:c.12926A>T	XP_016884693.1:p.Asn4309Ile
XM_017029206.1:c.12773A>T	XP_016884695.1:p.Asn4258Ile
XM_024452322.1:c.13043A>T	XP_024308090.1:p.Asn4348Ile
NM_031407.7:c.12794A>T MANE Select	NP_113584.3:p.Asn4265Ile