Canonical Allele Identifier: CA200934097

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 225292
• ClinVar RCV Id: RCV000490375 ; RCV002515591
• dbSNP Id: rs138014548
• gnomAD v3: 9-133442676-C-A
• gnomAD v4: 9-133442676-C-A
• MyVariant Identifiers: chr9:g.133442676C>A (hg38)
• PubMed: PMID:21781265 ; PMID:23346910

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133442676C>A , CM000671.2:g.133442676C>A	GRCh38
NC_000009.10:g.135297618C>A	NCBI36
NG_011934.2:g.33338C>A , LRG_544:g.33338C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2167C>A MANE Select	ENSP00000347927.2:p.Gln723Lys
ENST00000355699.6:c.2167C>A	ENSP00000347927.2:p.Gln723Lys
ENST00000356589.6:c.2074C>A	ENSP00000348997.2:p.Gln692Lys
ENST00000371916.5:c.1224+2151C>A	ENSP00000360984.2:n.1224+2151C>A
ENST00000371929.7:c.2167C>A	ENSP00000360997.3:p.Gln723Lys
ENST00000474918.1:c.*773-700C>A	ENSP00000435305.1:n.*773-700C>A
ENST00000485925.5:n.1236+2151C>A
ENST00000495234.5:c.*1252+2151C>A	ENSP00000435274.1:n.*1252+2151C>A
NM_139025.4:c.2167C>A , LRG_544t1:c.2167C>A	NP_620594.1:p.Gln723Lys
NM_139026.4:c.2074C>A	NP_620595.1:p.Gln692Lys
NM_139027.4:c.2167C>A	NP_620596.2:p.Gln723Lys
NR_024514.2:n.1255+2151C>A
XM_011518174.1:c.1777C>A	XP_011516476.1:p.Gln593Lys
XM_011518175.1:c.2167C>A	XP_011516477.1:p.Gln723Lys
XM_011518176.1:c.1183C>A	XP_011516478.1:p.Gln395Lys
XM_011518177.1:c.1177C>A	XP_011516479.1:p.Gln393Lys
XM_011518178.1:c.832C>A	XP_011516480.1:p.Gln278Lys
XM_011518179.1:c.832C>A	XP_011516481.1:p.Gln278Lys
XM_011518180.1:c.687-2187C>A	XP_011516482.1:n.687-2187C>A
XM_011518176.3:c.1183C>A	XP_011516478.1:p.Gln395Lys
XM_011518178.2:c.832C>A	XP_011516480.1:p.Gln278Lys
XM_017014232.1:c.2155C>A	XP_016869721.1:p.Gln719Lys
XM_017014233.1:c.1777C>A	XP_016869722.1:p.Gln593Lys
XM_017014234.2:c.1177C>A	XP_016869723.1:p.Gln393Lys
XM_017014235.1:c.2167C>A	XP_016869724.1:p.Gln723Lys
XR_001746171.1:n.3193+2151C>A
NM_139026.5:c.2074C>A	NP_620595.1:p.Gln692Lys
NM_139027.5:c.2167C>A	NP_620596.2:p.Gln723Lys
NM_139025.5:c.2167C>A	NP_620594.1:p.Gln723Lys
NM_139026.6:c.2074C>A	NP_620595.1:p.Gln692Lys
NM_139027.6:c.2167C>A MANE Select	NP_620596.2:p.Gln723Lys
NR_024514.3:n.1257+2151C>A