Canonical Allele Identifier: CA413155266

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564571T>C (hg19) ; chrX:g.53537610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537610T>C , CM000685.2:g.53537610T>C	GRCh38
NC_000023.10:g.53564571T>C , CM000685.1:g.53564571T>C	GRCh37
NC_000023.9:g.53581296T>C	NCBI36
NG_016261.2:g.154124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11867A>G	ENSP00000515693.1:p.Glu3956Gly
ENST00000262854.11:c.12083A>G MANE Select	ENSP00000262854.6:p.Glu4028Gly
ENST00000262854.10:c.12083A>G	ENSP00000262854.6:p.Glu4028Gly
ENST00000342160.7:c.12083A>G	ENSP00000340648.3:p.Glu4028Gly
ENST00000426907.5:c.2550A>G
ENST00000480438.1:n.218A>G
ENST00000612484.4:c.12056A>G	ENSP00000479451.1:p.Glu4019Gly
NM_031407.6:c.12083A>G	NP_113584.3:p.Glu4028Gly
XM_005261965.2:c.12083A>G	XP_005262022.1:p.Glu4028Gly
XM_011530746.1:c.12332A>G	XP_011529048.1:p.Glu4111Gly
XM_011530747.1:c.12332A>G	XP_011529049.1:p.Glu4111Gly
XM_011530748.1:c.12332A>G	XP_011529050.1:p.Glu4111Gly
XM_011530749.1:c.12332A>G	XP_011529051.1:p.Glu4111Gly
XM_011530750.1:c.12332A>G	XP_011529052.1:p.Glu4111Gly
XM_011530751.1:c.12332A>G	XP_011529053.1:p.Glu4111Gly
XM_011530752.1:c.12329A>G	XP_011529054.1:p.Glu4110Gly
XM_011530753.1:c.12287A>G	XP_011529055.1:p.Glu4096Gly
XM_011530754.1:c.12284A>G	XP_011529056.1:p.Glu4095Gly
XM_011530755.1:c.12281A>G	XP_011529057.1:p.Glu4094Gly
XM_011530756.1:c.12233A>G	XP_011529058.1:p.Glu4078Gly
XM_011530757.1:c.11930A>G	XP_011529059.1:p.Glu3977Gly
XM_005261965.4:c.12083A>G	XP_005262022.1:p.Glu4028Gly
XM_011530751.2:c.12332A>G	XP_011529053.1:p.Glu4111Gly
XM_017029191.1:c.12464A>G	XP_016884680.1:p.Glu4155Gly
XM_017029192.1:c.12461A>G	XP_016884681.1:p.Glu4154Gly
XM_017029193.1:c.12443A>G	XP_016884682.1:p.Glu4148Gly
XM_017029194.1:c.12419A>G	XP_016884683.1:p.Glu4140Gly
XM_017029195.1:c.12416A>G	XP_016884684.1:p.Glu4139Gly
XM_017029196.1:c.12413A>G	XP_016884685.1:p.Glu4138Gly
XM_017029197.1:c.12365A>G	XP_016884686.1:p.Glu4122Gly
XM_017029198.2:c.12353A>G	XP_016884687.1:p.Glu4118Gly
XM_017029199.1:c.12353A>G	XP_016884688.1:p.Glu4118Gly
XM_017029200.1:c.12353A>G	XP_016884689.1:p.Glu4118Gly
XM_017029201.1:c.12353A>G	XP_016884690.1:p.Glu4118Gly
XM_017029202.1:c.12353A>G	XP_016884691.1:p.Glu4118Gly
XM_017029203.1:c.12353A>G	XP_016884692.1:p.Glu4118Gly
XM_017029204.1:c.12215A>G	XP_016884693.1:p.Glu4072Gly
XM_017029206.1:c.12062A>G	XP_016884695.1:p.Glu4021Gly
XM_024452322.1:c.12332A>G	XP_024308090.1:p.Glu4111Gly
NM_031407.7:c.12083A>G MANE Select	NP_113584.3:p.Glu4028Gly