Canonical Allele Identifier: CA413155779

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564613T>C (hg19) ; chrX:g.53537652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537652T>C , CM000685.2:g.53537652T>C	GRCh38
NC_000023.10:g.53564613T>C , CM000685.1:g.53564613T>C	GRCh37
NC_000023.9:g.53581338T>C	NCBI36
NG_016261.2:g.154082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11825A>G	ENSP00000515693.1:p.Lys3942Arg
ENST00000262854.11:c.12041A>G MANE Select	ENSP00000262854.6:p.Lys4014Arg
ENST00000262854.10:c.12041A>G	ENSP00000262854.6:p.Lys4014Arg
ENST00000342160.7:c.12041A>G	ENSP00000340648.3:p.Lys4014Arg
ENST00000426907.5:c.2508A>G
ENST00000480438.1:n.176A>G
ENST00000612484.4:c.12014A>G	ENSP00000479451.1:p.Lys4005Arg
NM_031407.6:c.12041A>G	NP_113584.3:p.Lys4014Arg
XM_005261965.2:c.12041A>G	XP_005262022.1:p.Lys4014Arg
XM_011530746.1:c.12290A>G	XP_011529048.1:p.Lys4097Arg
XM_011530747.1:c.12290A>G	XP_011529049.1:p.Lys4097Arg
XM_011530748.1:c.12290A>G	XP_011529050.1:p.Lys4097Arg
XM_011530749.1:c.12290A>G	XP_011529051.1:p.Lys4097Arg
XM_011530750.1:c.12290A>G	XP_011529052.1:p.Lys4097Arg
XM_011530751.1:c.12290A>G	XP_011529053.1:p.Lys4097Arg
XM_011530752.1:c.12287A>G	XP_011529054.1:p.Lys4096Arg
XM_011530753.1:c.12245A>G	XP_011529055.1:p.Lys4082Arg
XM_011530754.1:c.12242A>G	XP_011529056.1:p.Lys4081Arg
XM_011530755.1:c.12239A>G	XP_011529057.1:p.Lys4080Arg
XM_011530756.1:c.12191A>G	XP_011529058.1:p.Lys4064Arg
XM_011530757.1:c.11888A>G	XP_011529059.1:p.Lys3963Arg
XM_005261965.4:c.12041A>G	XP_005262022.1:p.Lys4014Arg
XM_011530751.2:c.12290A>G	XP_011529053.1:p.Lys4097Arg
XM_017029191.1:c.12422A>G	XP_016884680.1:p.Lys4141Arg
XM_017029192.1:c.12419A>G	XP_016884681.1:p.Lys4140Arg
XM_017029193.1:c.12401A>G	XP_016884682.1:p.Lys4134Arg
XM_017029194.1:c.12377A>G	XP_016884683.1:p.Lys4126Arg
XM_017029195.1:c.12374A>G	XP_016884684.1:p.Lys4125Arg
XM_017029196.1:c.12371A>G	XP_016884685.1:p.Lys4124Arg
XM_017029197.1:c.12323A>G	XP_016884686.1:p.Lys4108Arg
XM_017029198.2:c.12311A>G	XP_016884687.1:p.Lys4104Arg
XM_017029199.1:c.12311A>G	XP_016884688.1:p.Lys4104Arg
XM_017029200.1:c.12311A>G	XP_016884689.1:p.Lys4104Arg
XM_017029201.1:c.12311A>G	XP_016884690.1:p.Lys4104Arg
XM_017029202.1:c.12311A>G	XP_016884691.1:p.Lys4104Arg
XM_017029203.1:c.12311A>G	XP_016884692.1:p.Lys4104Arg
XM_017029204.1:c.12173A>G	XP_016884693.1:p.Lys4058Arg
XM_017029206.1:c.12020A>G	XP_016884695.1:p.Lys4007Arg
XM_024452322.1:c.12290A>G	XP_024308090.1:p.Lys4097Arg
NM_031407.7:c.12041A>G MANE Select	NP_113584.3:p.Lys4014Arg