Canonical Allele Identifier: CA413155857

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564625T>A (hg19) ; chrX:g.53537664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537664T>A , CM000685.2:g.53537664T>A	GRCh38
NC_000023.10:g.53564625T>A , CM000685.1:g.53564625T>A	GRCh37
NC_000023.9:g.53581350T>A	NCBI36
NG_016261.2:g.154070A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11813A>T	ENSP00000515693.1:p.Glu3938Val
ENST00000262854.11:c.12029A>T MANE Select	ENSP00000262854.6:p.Glu4010Val
ENST00000262854.10:c.12029A>T	ENSP00000262854.6:p.Glu4010Val
ENST00000342160.7:c.12029A>T	ENSP00000340648.3:p.Glu4010Val
ENST00000426907.5:c.2496A>T
ENST00000480438.1:n.164A>T
ENST00000612484.4:c.12002A>T	ENSP00000479451.1:p.Glu4001Val
NM_031407.6:c.12029A>T	NP_113584.3:p.Glu4010Val
XM_005261965.2:c.12029A>T	XP_005262022.1:p.Glu4010Val
XM_011530746.1:c.12278A>T	XP_011529048.1:p.Glu4093Val
XM_011530747.1:c.12278A>T	XP_011529049.1:p.Glu4093Val
XM_011530748.1:c.12278A>T	XP_011529050.1:p.Glu4093Val
XM_011530749.1:c.12278A>T	XP_011529051.1:p.Glu4093Val
XM_011530750.1:c.12278A>T	XP_011529052.1:p.Glu4093Val
XM_011530751.1:c.12278A>T	XP_011529053.1:p.Glu4093Val
XM_011530752.1:c.12275A>T	XP_011529054.1:p.Glu4092Val
XM_011530753.1:c.12233A>T	XP_011529055.1:p.Glu4078Val
XM_011530754.1:c.12230A>T	XP_011529056.1:p.Glu4077Val
XM_011530755.1:c.12227A>T	XP_011529057.1:p.Glu4076Val
XM_011530756.1:c.12179A>T	XP_011529058.1:p.Glu4060Val
XM_011530757.1:c.11876A>T	XP_011529059.1:p.Glu3959Val
XM_005261965.4:c.12029A>T	XP_005262022.1:p.Glu4010Val
XM_011530751.2:c.12278A>T	XP_011529053.1:p.Glu4093Val
XM_017029191.1:c.12410A>T	XP_016884680.1:p.Glu4137Val
XM_017029192.1:c.12407A>T	XP_016884681.1:p.Glu4136Val
XM_017029193.1:c.12389A>T	XP_016884682.1:p.Glu4130Val
XM_017029194.1:c.12365A>T	XP_016884683.1:p.Glu4122Val
XM_017029195.1:c.12362A>T	XP_016884684.1:p.Glu4121Val
XM_017029196.1:c.12359A>T	XP_016884685.1:p.Glu4120Val
XM_017029197.1:c.12311A>T	XP_016884686.1:p.Glu4104Val
XM_017029198.2:c.12299A>T	XP_016884687.1:p.Glu4100Val
XM_017029199.1:c.12299A>T	XP_016884688.1:p.Glu4100Val
XM_017029200.1:c.12299A>T	XP_016884689.1:p.Glu4100Val
XM_017029201.1:c.12299A>T	XP_016884690.1:p.Glu4100Val
XM_017029202.1:c.12299A>T	XP_016884691.1:p.Glu4100Val
XM_017029203.1:c.12299A>T	XP_016884692.1:p.Glu4100Val
XM_017029204.1:c.12161A>T	XP_016884693.1:p.Glu4054Val
XM_017029206.1:c.12008A>T	XP_016884695.1:p.Glu4003Val
XM_024452322.1:c.12278A>T	XP_024308090.1:p.Glu4093Val
NM_031407.7:c.12029A>T MANE Select	NP_113584.3:p.Glu4010Val