Canonical Allele Identifier: CA10632757

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 365561
• ClinVar RCV Id: RCV000296620 ; RCV003574766
• dbSNP Id: rs782748173
• gnomAD v3: 9-133454523-C-T
• gnomAD v4: 9-133454523-C-T
• MyVariant Identifiers: chr9:g.133454523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454523C>T , CM000671.2:g.133454523C>T	GRCh38
NC_000009.10:g.135309466C>T	NCBI36
NG_011934.2:g.45185C>T , LRG_544:g.45185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3153C>T MANE Select	ENSP00000347927.2:p.Asp1051=
ENST00000355699.6:c.3153C>T	ENSP00000347927.2:p.Asp1051=
ENST00000356589.6:c.3060C>T	ENSP00000348997.2:p.Asp1020=
ENST00000371916.5:c.*622C>T	ENSP00000360984.2:n.*622C>T
ENST00000371929.7:c.3153C>T	ENSP00000360997.3:p.Asp1051=
ENST00000485925.5:n.1969C>T
NM_139025.4:c.3153C>T , LRG_544t1:c.3153C>T	NP_620594.1:p.Asp1051=
NM_139026.4:c.3060C>T	NP_620595.1:p.Asp1020=
NM_139027.4:c.3153C>T	NP_620596.2:p.Asp1051=
NR_024514.2:n.1988C>T
XM_011518174.1:c.2763C>T	XP_011516476.1:p.Asp921=
XM_011518175.1:c.3153C>T	XP_011516477.1:p.Asp1051=
XM_011518176.1:c.2169C>T	XP_011516478.1:p.Asp723=
XM_011518177.1:c.2163C>T	XP_011516479.1:p.Asp721=
XM_011518178.1:c.1818C>T	XP_011516480.1:p.Asp606=
XM_011518179.1:c.1818C>T	XP_011516481.1:p.Asp606=
XM_011518180.1:c.1419C>T	XP_011516482.1:p.Asp473=
XM_011518176.3:c.2169C>T	XP_011516478.1:p.Asp723=
XM_011518178.2:c.1818C>T	XP_011516480.1:p.Asp606=
XM_017014232.1:c.3141C>T	XP_016869721.1:p.Asp1047=
XM_017014233.1:c.2763C>T	XP_016869722.1:p.Asp921=
XM_017014234.2:c.2163C>T	XP_016869723.1:p.Asp721=
NM_139026.5:c.3060C>T	NP_620595.1:p.Asp1020=
NM_139027.5:c.3153C>T	NP_620596.2:p.Asp1051=
NM_139025.5:c.3153C>T	NP_620594.1:p.Asp1051=
NM_139026.6:c.3060C>T	NP_620595.1:p.Asp1020=
NM_139027.6:c.3153C>T MANE Select	NP_620596.2:p.Asp1051=
NR_024514.3:n.1990C>T