Canonical Allele Identifier: CA1882673144
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436895C= , CM000671.2:g.133436895C= GRCh38
NC_000009.10:g.135291836C= NCBI36
NG_011934.2:g.27557C= , LRG_544:g.27557C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1375C= MANE Select ENSP00000347927.2:p.Arg459=
ENST00000355699.6:c.1375C= ENSP00000347927.2:p.Arg459=
ENST00000356589.6:c.1282C= ENSP00000348997.2:p.Arg428=
ENST00000371916.5:c.631C= ENSP00000360984.2:p.Arg211=
ENST00000371929.7:c.1375C= ENSP00000360997.3:p.Arg459=
ENST00000474918.1:c.*179C= ENSP00000435305.1:n.*179C=
ENST00000485925.5:n.974-2471C=
ENST00000495234.5:c.*659C= ENSP00000435274.1:n.*659C=
NM_139025.4:c.1375C= , LRG_544t1:c.1375C= NP_620594.1:p.Arg459=
NM_139026.4:c.1282C= NP_620595.1:p.Arg428=
NM_139027.4:c.1375C= NP_620596.2:p.Arg459=
NR_024514.2:n.993-2471C=
XM_011518174.1:c.985C= XP_011516476.1:p.Arg329=
XM_011518175.1:c.1375C= XP_011516477.1:p.Arg459=
XM_011518176.1:c.391C= XP_011516478.1:p.Arg131=
XM_011518177.1:c.385C= XP_011516479.1:p.Arg129=
XM_011518178.1:c.40C= XP_011516480.1:p.Arg14=
XM_011518179.1:c.161C= XP_011516481.1:p.Ala54=
XM_011518180.1:c.687-7968C= XP_011516482.1:n.687-7968C=
XM_011518176.3:c.391C= XP_011516478.1:p.Arg131=
XM_011518178.2:c.40C= XP_011516480.1:p.Arg14=
XM_017014232.1:c.1363C= XP_016869721.1:p.Arg455=
XM_017014233.1:c.985C= XP_016869722.1:p.Arg329=
XM_017014234.2:c.385C= XP_016869723.1:p.Arg129=
XM_017014235.1:c.1375C= XP_016869724.1:p.Arg459=
XR_001746171.1:n.2600C=
NM_139026.5:c.1282C= NP_620595.1:p.Arg428=
NM_139027.5:c.1375C= NP_620596.2:p.Arg459=
NM_139025.5:c.1375C= NP_620594.1:p.Arg459=
NM_139026.6:c.1282C= NP_620595.1:p.Arg428=
NM_139027.6:c.1375C= MANE Select NP_620596.2:p.Arg459=
NR_024514.3:n.995-2471C=