Canonical Allele Identifier: CA413143519
Gene: HUWE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534013T>C , CM000685.2:g.53534013T>C GRCh38
NC_000023.10:g.53560974T>C , CM000685.1:g.53560974T>C GRCh37
NC_000023.9:g.53577699T>C NCBI36
NG_016261.2:g.157721A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.12800A>G ENSP00000515693.1:p.His4267Arg
ENST00000262854.11:c.13016A>G MANE Select ENSP00000262854.6:p.His4339Arg
ENST00000262854.10:c.13016A>G ENSP00000262854.6:p.His4339Arg
ENST00000342160.7:c.13016A>G ENSP00000340648.3:p.His4339Arg
ENST00000426907.5:c.3483A>G
ENST00000488459.1:n.329A>G
ENST00000612484.4:c.12989A>G ENSP00000479451.1:p.His4330Arg
NM_031407.6:c.13016A>G NP_113584.3:p.His4339Arg
XM_005261965.2:c.13016A>G XP_005262022.1:p.His4339Arg
XM_011530746.1:c.13265A>G XP_011529048.1:p.His4422Arg
XM_011530747.1:c.13265A>G XP_011529049.1:p.His4422Arg
XM_011530748.1:c.13265A>G XP_011529050.1:p.His4422Arg
XM_011530749.1:c.13265A>G XP_011529051.1:p.His4422Arg
XM_011530750.1:c.13265A>G XP_011529052.1:p.His4422Arg
XM_011530751.1:c.13265A>G XP_011529053.1:p.His4422Arg
XM_011530752.1:c.13262A>G XP_011529054.1:p.His4421Arg
XM_011530753.1:c.13220A>G XP_011529055.1:p.His4407Arg
XM_011530754.1:c.13217A>G XP_011529056.1:p.His4406Arg
XM_011530755.1:c.13214A>G XP_011529057.1:p.His4405Arg
XM_011530756.1:c.13166A>G XP_011529058.1:p.His4389Arg
XM_011530757.1:c.12863A>G XP_011529059.1:p.His4288Arg
XM_005261965.4:c.13016A>G XP_005262022.1:p.His4339Arg
XM_011530751.2:c.13265A>G XP_011529053.1:p.His4422Arg
XM_017029191.1:c.13397A>G XP_016884680.1:p.His4466Arg
XM_017029192.1:c.13394A>G XP_016884681.1:p.His4465Arg
XM_017029193.1:c.13376A>G XP_016884682.1:p.His4459Arg
XM_017029194.1:c.13352A>G XP_016884683.1:p.His4451Arg
XM_017029195.1:c.13349A>G XP_016884684.1:p.His4450Arg
XM_017029196.1:c.13346A>G XP_016884685.1:p.His4449Arg
XM_017029197.1:c.13298A>G XP_016884686.1:p.His4433Arg
XM_017029198.2:c.13286A>G XP_016884687.1:p.His4429Arg
XM_017029199.1:c.13286A>G XP_016884688.1:p.His4429Arg
XM_017029200.1:c.13286A>G XP_016884689.1:p.His4429Arg
XM_017029201.1:c.13286A>G XP_016884690.1:p.His4429Arg
XM_017029202.1:c.13286A>G XP_016884691.1:p.His4429Arg
XM_017029203.1:c.13286A>G XP_016884692.1:p.His4429Arg
XM_017029204.1:c.13148A>G XP_016884693.1:p.His4383Arg
XM_017029206.1:c.12995A>G XP_016884695.1:p.His4332Arg
XM_024452322.1:c.13265A>G XP_024308090.1:p.His4422Arg
NM_031407.7:c.13016A>G MANE Select NP_113584.3:p.His4339Arg