Canonical Allele Identifier: CA1882673141
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436890C= , CM000671.2:g.133436890C= GRCh38
NC_000009.10:g.135291831C= NCBI36
NG_011934.2:g.27552C= , LRG_544:g.27552C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1370C= MANE Select ENSP00000347927.2:p.Pro457=
ENST00000355699.6:c.1370C= ENSP00000347927.2:p.Pro457=
ENST00000356589.6:c.1277C= ENSP00000348997.2:p.Pro426=
ENST00000371916.5:c.626C= ENSP00000360984.2:p.Pro209=
ENST00000371929.7:c.1370C= ENSP00000360997.3:p.Pro457=
ENST00000474918.1:c.*174C= ENSP00000435305.1:n.*174C=
ENST00000485925.5:n.974-2476C=
ENST00000495234.5:c.*654C= ENSP00000435274.1:n.*654C=
NM_139025.4:c.1370C= , LRG_544t1:c.1370C= NP_620594.1:p.Pro457=
NM_139026.4:c.1277C= NP_620595.1:p.Pro426=
NM_139027.4:c.1370C= NP_620596.2:p.Pro457=
NR_024514.2:n.993-2476C=
XM_011518174.1:c.980C= XP_011516476.1:p.Pro327=
XM_011518175.1:c.1370C= XP_011516477.1:p.Pro457=
XM_011518176.1:c.386C= XP_011516478.1:p.Pro129=
XM_011518177.1:c.380C= XP_011516479.1:p.Pro127=
XM_011518178.1:c.35C= XP_011516480.1:p.Pro12=
XM_011518179.1:c.156C= XP_011516481.1:p.Ala52=
XM_011518180.1:c.687-7973C= XP_011516482.1:n.687-7973C=
XM_011518176.3:c.386C= XP_011516478.1:p.Pro129=
XM_011518178.2:c.35C= XP_011516480.1:p.Pro12=
XM_017014232.1:c.1358C= XP_016869721.1:p.Pro453=
XM_017014233.1:c.980C= XP_016869722.1:p.Pro327=
XM_017014234.2:c.380C= XP_016869723.1:p.Pro127=
XM_017014235.1:c.1370C= XP_016869724.1:p.Pro457=
XR_001746171.1:n.2595C=
NM_139026.5:c.1277C= NP_620595.1:p.Pro426=
NM_139027.5:c.1370C= NP_620596.2:p.Pro457=
NM_139025.5:c.1370C= NP_620594.1:p.Pro457=
NM_139026.6:c.1277C= NP_620595.1:p.Pro426=
NM_139027.6:c.1370C= MANE Select NP_620596.2:p.Pro457=
NR_024514.3:n.995-2476C=