Canonical Allele Identifier: CA200943168

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 913128
• ClinVar RCV Id: RCV001166613 ; RCV002559597
• dbSNP Id: rs376017677
• gnomAD v3: 9-133454537-C-T
• gnomAD v4: 9-133454537-C-T
• MyVariant Identifiers: chr9:g.133454537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454537C>T , CM000671.2:g.133454537C>T	GRCh38
NC_000009.10:g.135309480C>T	NCBI36
NG_011934.2:g.45199C>T , LRG_544:g.45199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3167C>T MANE Select	ENSP00000347927.2:p.Ala1056Val
ENST00000355699.6:c.3167C>T	ENSP00000347927.2:p.Ala1056Val
ENST00000356589.6:c.3074C>T	ENSP00000348997.2:p.Ala1025Val
ENST00000371916.5:c.*636C>T	ENSP00000360984.2:n.*636C>T
ENST00000371929.7:c.3167C>T	ENSP00000360997.3:p.Ala1056Val
ENST00000485925.5:n.1983C>T
NM_139025.4:c.3167C>T , LRG_544t1:c.3167C>T	NP_620594.1:p.Ala1056Val
NM_139026.4:c.3074C>T	NP_620595.1:p.Ala1025Val
NM_139027.4:c.3167C>T	NP_620596.2:p.Ala1056Val
NR_024514.2:n.2002C>T
XM_011518174.1:c.2777C>T	XP_011516476.1:p.Ala926Val
XM_011518175.1:c.3167C>T	XP_011516477.1:p.Ala1056Val
XM_011518176.1:c.2183C>T	XP_011516478.1:p.Ala728Val
XM_011518177.1:c.2177C>T	XP_011516479.1:p.Ala726Val
XM_011518178.1:c.1832C>T	XP_011516480.1:p.Ala611Val
XM_011518179.1:c.1832C>T	XP_011516481.1:p.Ala611Val
XM_011518180.1:c.1433C>T	XP_011516482.1:p.Ala478Val
XM_011518176.3:c.2183C>T	XP_011516478.1:p.Ala728Val
XM_011518178.2:c.1832C>T	XP_011516480.1:p.Ala611Val
XM_017014232.1:c.3155C>T	XP_016869721.1:p.Ala1052Val
XM_017014233.1:c.2777C>T	XP_016869722.1:p.Ala926Val
XM_017014234.2:c.2177C>T	XP_016869723.1:p.Ala726Val
NM_139026.5:c.3074C>T	NP_620595.1:p.Ala1025Val
NM_139027.5:c.3167C>T	NP_620596.2:p.Ala1056Val
NM_139025.5:c.3167C>T	NP_620594.1:p.Ala1056Val
NM_139026.6:c.3074C>T	NP_620595.1:p.Ala1025Val
NM_139027.6:c.3167C>T MANE Select	NP_620596.2:p.Ala1056Val
NR_024514.3:n.2004C>T