Canonical Allele Identifier: CA117751
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133433478G>A , CM000671.2:g.133433478G>A GRCh38
NC_000009.10:g.135288419G>A NCBI36
NG_011934.2:g.24140G>A , LRG_544:g.24140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1193G>A MANE Select ENSP00000347927.2:p.Arg398His
ENST00000355699.6:c.1193G>A ENSP00000347927.2:p.Arg398His
ENST00000356589.6:c.1100G>A ENSP00000348997.2:p.Arg367His
ENST00000371916.5:c.449G>A ENSP00000360984.2:p.Arg150His
ENST00000371929.7:c.1193G>A ENSP00000360997.3:p.Arg398His
ENST00000474918.1:c.*61G>A ENSP00000435305.1:n.*61G>A
ENST00000485925.5:n.973+786G>A
ENST00000495234.5:c.*477G>A ENSP00000435274.1:n.*477G>A
NM_139025.4:c.1193G>A , LRG_544t1:c.1193G>A NP_620594.1:p.Arg398His
NM_139026.4:c.1100G>A NP_620595.1:p.Arg367His
NM_139027.4:c.1193G>A NP_620596.2:p.Arg398His
NR_024514.2:n.992+786G>A
XM_011518174.1:c.803G>A XP_011516476.1:p.Arg268His
XM_011518175.1:c.1193G>A XP_011516477.1:p.Arg398His
XM_011518176.1:c.209G>A XP_011516478.1:p.Arg70His
XM_011518177.1:c.203G>A XP_011516479.1:p.Arg68His
XM_011518178.1:c.-79G>A XP_011516480.1:n.-79G>A
XM_011518179.1:c.43G>A XP_011516481.1:p.Ala15Thr
XM_011518180.1:c.686+7133G>A XP_011516482.1:n.686+7133G>A
XM_011518176.3:c.209G>A XP_011516478.1:p.Arg70His
XM_011518178.2:c.-79G>A XP_011516480.1:n.-79G>A
XM_017014232.1:c.1181G>A XP_016869721.1:p.Arg394His
XM_017014233.1:c.803G>A XP_016869722.1:p.Arg268His
XM_017014234.2:c.203G>A XP_016869723.1:p.Arg68His
XM_017014235.1:c.1193G>A XP_016869724.1:p.Arg398His
XR_001746171.1:n.2418G>A
NM_139026.5:c.1100G>A NP_620595.1:p.Arg367His
NM_139027.5:c.1193G>A NP_620596.2:p.Arg398His
NM_139025.5:c.1193G>A NP_620594.1:p.Arg398His
NM_139026.6:c.1100G>A NP_620595.1:p.Arg367His
NM_139027.6:c.1193G>A MANE Select NP_620596.2:p.Arg398His
NR_024514.3:n.994+786G>A