Canonical Allele Identifier: CA413146201

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534568-T-C
• MyVariant Identifiers: chrX:g.53561529T>C (hg19) ; chrX:g.53534568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534568T>C , CM000685.2:g.53534568T>C	GRCh38
NC_000023.10:g.53561529T>C , CM000685.1:g.53561529T>C	GRCh37
NC_000023.9:g.53578254T>C	NCBI36
NG_016261.2:g.157166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12563A>G	ENSP00000515693.1:p.Asp4188Gly
ENST00000262854.11:c.12779A>G MANE Select	ENSP00000262854.6:p.Asp4260Gly
ENST00000262854.10:c.12779A>G	ENSP00000262854.6:p.Asp4260Gly
ENST00000342160.7:c.12779A>G	ENSP00000340648.3:p.Asp4260Gly
ENST00000426907.5:c.3246A>G
ENST00000488459.1:n.92A>G
ENST00000612484.4:c.12752A>G	ENSP00000479451.1:p.Asp4251Gly
NM_031407.6:c.12779A>G	NP_113584.3:p.Asp4260Gly
XM_005261965.2:c.12779A>G	XP_005262022.1:p.Asp4260Gly
XM_011530746.1:c.13028A>G	XP_011529048.1:p.Asp4343Gly
XM_011530747.1:c.13028A>G	XP_011529049.1:p.Asp4343Gly
XM_011530748.1:c.13028A>G	XP_011529050.1:p.Asp4343Gly
XM_011530749.1:c.13028A>G	XP_011529051.1:p.Asp4343Gly
XM_011530750.1:c.13028A>G	XP_011529052.1:p.Asp4343Gly
XM_011530751.1:c.13028A>G	XP_011529053.1:p.Asp4343Gly
XM_011530752.1:c.13025A>G	XP_011529054.1:p.Asp4342Gly
XM_011530753.1:c.12983A>G	XP_011529055.1:p.Asp4328Gly
XM_011530754.1:c.12980A>G	XP_011529056.1:p.Asp4327Gly
XM_011530755.1:c.12977A>G	XP_011529057.1:p.Asp4326Gly
XM_011530756.1:c.12929A>G	XP_011529058.1:p.Asp4310Gly
XM_011530757.1:c.12626A>G	XP_011529059.1:p.Asp4209Gly
XM_005261965.4:c.12779A>G	XP_005262022.1:p.Asp4260Gly
XM_011530751.2:c.13028A>G	XP_011529053.1:p.Asp4343Gly
XM_017029191.1:c.13160A>G	XP_016884680.1:p.Asp4387Gly
XM_017029192.1:c.13157A>G	XP_016884681.1:p.Asp4386Gly
XM_017029193.1:c.13139A>G	XP_016884682.1:p.Asp4380Gly
XM_017029194.1:c.13115A>G	XP_016884683.1:p.Asp4372Gly
XM_017029195.1:c.13112A>G	XP_016884684.1:p.Asp4371Gly
XM_017029196.1:c.13109A>G	XP_016884685.1:p.Asp4370Gly
XM_017029197.1:c.13061A>G	XP_016884686.1:p.Asp4354Gly
XM_017029198.2:c.13049A>G	XP_016884687.1:p.Asp4350Gly
XM_017029199.1:c.13049A>G	XP_016884688.1:p.Asp4350Gly
XM_017029200.1:c.13049A>G	XP_016884689.1:p.Asp4350Gly
XM_017029201.1:c.13049A>G	XP_016884690.1:p.Asp4350Gly
XM_017029202.1:c.13049A>G	XP_016884691.1:p.Asp4350Gly
XM_017029203.1:c.13049A>G	XP_016884692.1:p.Asp4350Gly
XM_017029204.1:c.12911A>G	XP_016884693.1:p.Asp4304Gly
XM_017029206.1:c.12758A>G	XP_016884695.1:p.Asp4253Gly
XM_024452322.1:c.13028A>G	XP_024308090.1:p.Asp4343Gly
NM_031407.7:c.12779A>G MANE Select	NP_113584.3:p.Asp4260Gly