Canonical Allele Identifier: CA516420432
Gene: HUWE1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534573G>A , CM000685.2:g.53534573G>A GRCh38
NC_000023.10:g.53561534G>A , CM000685.1:g.53561534G>A GRCh37
NC_000023.9:g.53578259G>A NCBI36
NG_016261.2:g.157161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.12558C>T ENSP00000515693.1:p.Asp4186=
ENST00000262854.11:c.12774C>T MANE Select ENSP00000262854.6:p.Asp4258=
ENST00000262854.10:c.12774C>T ENSP00000262854.6:p.Asp4258=
ENST00000342160.7:c.12774C>T ENSP00000340648.3:p.Asp4258=
ENST00000426907.5:c.3241C>T
ENST00000488459.1:n.87C>T
ENST00000612484.4:c.12747C>T ENSP00000479451.1:p.Asp4249=
NM_031407.6:c.12774C>T NP_113584.3:p.Asp4258=
XM_005261965.2:c.12774C>T XP_005262022.1:p.Asp4258=
XM_011530746.1:c.13023C>T XP_011529048.1:p.Asp4341=
XM_011530747.1:c.13023C>T XP_011529049.1:p.Asp4341=
XM_011530748.1:c.13023C>T XP_011529050.1:p.Asp4341=
XM_011530749.1:c.13023C>T XP_011529051.1:p.Asp4341=
XM_011530750.1:c.13023C>T XP_011529052.1:p.Asp4341=
XM_011530751.1:c.13023C>T XP_011529053.1:p.Asp4341=
XM_011530752.1:c.13020C>T XP_011529054.1:p.Asp4340=
XM_011530753.1:c.12978C>T XP_011529055.1:p.Asp4326=
XM_011530754.1:c.12975C>T XP_011529056.1:p.Asp4325=
XM_011530755.1:c.12972C>T XP_011529057.1:p.Asp4324=
XM_011530756.1:c.12924C>T XP_011529058.1:p.Asp4308=
XM_011530757.1:c.12621C>T XP_011529059.1:p.Asp4207=
XM_005261965.4:c.12774C>T XP_005262022.1:p.Asp4258=
XM_011530751.2:c.13023C>T XP_011529053.1:p.Asp4341=
XM_017029191.1:c.13155C>T XP_016884680.1:p.Asp4385=
XM_017029192.1:c.13152C>T XP_016884681.1:p.Asp4384=
XM_017029193.1:c.13134C>T XP_016884682.1:p.Asp4378=
XM_017029194.1:c.13110C>T XP_016884683.1:p.Asp4370=
XM_017029195.1:c.13107C>T XP_016884684.1:p.Asp4369=
XM_017029196.1:c.13104C>T XP_016884685.1:p.Asp4368=
XM_017029197.1:c.13056C>T XP_016884686.1:p.Asp4352=
XM_017029198.2:c.13044C>T XP_016884687.1:p.Asp4348=
XM_017029199.1:c.13044C>T XP_016884688.1:p.Asp4348=
XM_017029200.1:c.13044C>T XP_016884689.1:p.Asp4348=
XM_017029201.1:c.13044C>T XP_016884690.1:p.Asp4348=
XM_017029202.1:c.13044C>T XP_016884691.1:p.Asp4348=
XM_017029203.1:c.13044C>T XP_016884692.1:p.Asp4348=
XM_017029204.1:c.12906C>T XP_016884693.1:p.Asp4302=
XM_017029206.1:c.12753C>T XP_016884695.1:p.Asp4251=
XM_024452322.1:c.13023C>T XP_024308090.1:p.Asp4341=
NM_031407.7:c.12774C>T MANE Select NP_113584.3:p.Asp4258=