Canonical Allele Identifier: CA16621451
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419084
ClinVar RCV Id: RCV000481839
dbSNP Id: rs1064793631

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534656A>G , CM000685.2:g.53534656A>G GRCh38
NC_000023.10:g.53561617A>G , CM000685.1:g.53561617A>G GRCh37
NC_000023.9:g.53578342A>G NCBI36
NG_016261.2:g.157078T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704099.1:c.12475T>C ENSP00000515693.1:p.Tyr4159His
ENST00000262854.11:c.12691T>C MANE Select ENSP00000262854.6:p.Tyr4231His
ENST00000262854.10:c.12691T>C ENSP00000262854.6:p.Tyr4231His
ENST00000342160.7:c.12691T>C ENSP00000340648.3:p.Tyr4231His
ENST00000426907.5:c.3158T>C
ENST00000488459.1:n.4T>C
ENST00000612484.4:c.12664T>C ENSP00000479451.1:p.Tyr4222His
NM_031407.6:c.12691T>C NP_113584.3:p.Tyr4231His
XM_005261965.2:c.12691T>C XP_005262022.1:p.Tyr4231His
XM_011530746.1:c.12940T>C XP_011529048.1:p.Tyr4314His
XM_011530747.1:c.12940T>C XP_011529049.1:p.Tyr4314His
XM_011530748.1:c.12940T>C XP_011529050.1:p.Tyr4314His
XM_011530749.1:c.12940T>C XP_011529051.1:p.Tyr4314His
XM_011530750.1:c.12940T>C XP_011529052.1:p.Tyr4314His
XM_011530751.1:c.12940T>C XP_011529053.1:p.Tyr4314His
XM_011530752.1:c.12937T>C XP_011529054.1:p.Tyr4313His
XM_011530753.1:c.12895T>C XP_011529055.1:p.Tyr4299His
XM_011530754.1:c.12892T>C XP_011529056.1:p.Tyr4298His
XM_011530755.1:c.12889T>C XP_011529057.1:p.Tyr4297His
XM_011530756.1:c.12841T>C XP_011529058.1:p.Tyr4281His
XM_011530757.1:c.12538T>C XP_011529059.1:p.Tyr4180His
XM_005261965.4:c.12691T>C XP_005262022.1:p.Tyr4231His
XM_011530751.2:c.12940T>C XP_011529053.1:p.Tyr4314His
XM_017029191.1:c.13072T>C XP_016884680.1:p.Tyr4358His
XM_017029192.1:c.13069T>C XP_016884681.1:p.Tyr4357His
XM_017029193.1:c.13051T>C XP_016884682.1:p.Tyr4351His
XM_017029194.1:c.13027T>C XP_016884683.1:p.Tyr4343His
XM_017029195.1:c.13024T>C XP_016884684.1:p.Tyr4342His
XM_017029196.1:c.13021T>C XP_016884685.1:p.Tyr4341His
XM_017029197.1:c.12973T>C XP_016884686.1:p.Tyr4325His
XM_017029198.2:c.12961T>C XP_016884687.1:p.Tyr4321His
XM_017029199.1:c.12961T>C XP_016884688.1:p.Tyr4321His
XM_017029200.1:c.12961T>C XP_016884689.1:p.Tyr4321His
XM_017029201.1:c.12961T>C XP_016884690.1:p.Tyr4321His
XM_017029202.1:c.12961T>C XP_016884691.1:p.Tyr4321His
XM_017029203.1:c.12961T>C XP_016884692.1:p.Tyr4321His
XM_017029204.1:c.12823T>C XP_016884693.1:p.Tyr4275His
XM_017029206.1:c.12670T>C XP_016884695.1:p.Tyr4224His
XM_024452322.1:c.12940T>C XP_024308090.1:p.Tyr4314His
NM_031407.7:c.12691T>C MANE Select NP_113584.3:p.Tyr4231His