Canonical Allele Identifier: CA375397847

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133443530-G-T
• MyVariant Identifiers: chr9:g.133443530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443530G>T , CM000671.2:g.133443530G>T	GRCh38
NC_000009.10:g.135298472G>T	NCBI36
NG_011934.2:g.34192G>T , LRG_544:g.34192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2389G>T MANE Select	ENSP00000347927.2:p.Glu797Ter
ENST00000355699.6:c.2389G>T	ENSP00000347927.2:p.Glu797Ter
ENST00000356589.6:c.2296G>T	ENSP00000348997.2:p.Glu766Ter
ENST00000371916.5:c.1225-1333G>T	ENSP00000360984.2:n.1225-1333G>T
ENST00000371929.7:c.2389G>T	ENSP00000360997.3:p.Glu797Ter
ENST00000474918.1:c.*927G>T	ENSP00000435305.1:n.*927G>T
ENST00000485925.5:n.1237-1333G>T
ENST00000495234.5:c.*1253-1333G>T	ENSP00000435274.1:n.*1253-1333G>T
NM_139025.4:c.2389G>T , LRG_544t1:c.2389G>T	NP_620594.1:p.Glu797Ter
NM_139026.4:c.2296G>T	NP_620595.1:p.Glu766Ter
NM_139027.4:c.2389G>T	NP_620596.2:p.Glu797Ter
NR_024514.2:n.1256-1333G>T
XM_011518174.1:c.1999G>T	XP_011516476.1:p.Glu667Ter
XM_011518175.1:c.2389G>T	XP_011516477.1:p.Glu797Ter
XM_011518176.1:c.1405G>T	XP_011516478.1:p.Glu469Ter
XM_011518177.1:c.1399G>T	XP_011516479.1:p.Glu467Ter
XM_011518178.1:c.1054G>T	XP_011516480.1:p.Glu352Ter
XM_011518179.1:c.1054G>T	XP_011516481.1:p.Glu352Ter
XM_011518180.1:c.687-1333G>T	XP_011516482.1:n.687-1333G>T
XM_011518176.3:c.1405G>T	XP_011516478.1:p.Glu469Ter
XM_011518178.2:c.1054G>T	XP_011516480.1:p.Glu352Ter
XM_017014232.1:c.2377G>T	XP_016869721.1:p.Glu793Ter
XM_017014233.1:c.1999G>T	XP_016869722.1:p.Glu667Ter
XM_017014234.2:c.1399G>T	XP_016869723.1:p.Glu467Ter
XM_017014235.1:c.2234+787G>T	XP_016869724.1:n.2234+787G>T
XR_001746171.1:n.3194-1333G>T
NM_139026.5:c.2296G>T	NP_620595.1:p.Glu766Ter
NM_139027.5:c.2389G>T	NP_620596.2:p.Glu797Ter
NM_139025.5:c.2389G>T	NP_620594.1:p.Glu797Ter
NM_139026.6:c.2296G>T	NP_620595.1:p.Glu766Ter
NM_139027.6:c.2389G>T MANE Select	NP_620596.2:p.Glu797Ter
NR_024514.3:n.1258-1333G>T