Canonical Allele Identifier: CA200934894

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 1336042
• ClinVar RCV Id: RCV001822224 ; RCV002541958
• dbSNP Id: rs201607490
• gnomAD v3: 9-133443525-C-T
• gnomAD v4: 9-133443525-C-T
• MyVariant Identifiers: chr9:g.133443525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443525C>T , CM000671.2:g.133443525C>T	GRCh38
NC_000009.10:g.135298467C>T	NCBI36
NG_011934.2:g.34187C>T , LRG_544:g.34187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2384C>T MANE Select	ENSP00000347927.2:p.Ala795Val
ENST00000355699.6:c.2384C>T	ENSP00000347927.2:p.Ala795Val
ENST00000356589.6:c.2291C>T	ENSP00000348997.2:p.Ala764Val
ENST00000371916.5:c.1225-1338C>T	ENSP00000360984.2:n.1225-1338C>T
ENST00000371929.7:c.2384C>T	ENSP00000360997.3:p.Ala795Val
ENST00000474918.1:c.*922C>T	ENSP00000435305.1:n.*922C>T
ENST00000485925.5:n.1237-1338C>T
ENST00000495234.5:c.*1253-1338C>T	ENSP00000435274.1:n.*1253-1338C>T
NM_139025.4:c.2384C>T , LRG_544t1:c.2384C>T	NP_620594.1:p.Ala795Val
NM_139026.4:c.2291C>T	NP_620595.1:p.Ala764Val
NM_139027.4:c.2384C>T	NP_620596.2:p.Ala795Val
NR_024514.2:n.1256-1338C>T
XM_011518174.1:c.1994C>T	XP_011516476.1:p.Ala665Val
XM_011518175.1:c.2384C>T	XP_011516477.1:p.Ala795Val
XM_011518176.1:c.1400C>T	XP_011516478.1:p.Ala467Val
XM_011518177.1:c.1394C>T	XP_011516479.1:p.Ala465Val
XM_011518178.1:c.1049C>T	XP_011516480.1:p.Ala350Val
XM_011518179.1:c.1049C>T	XP_011516481.1:p.Ala350Val
XM_011518180.1:c.687-1338C>T	XP_011516482.1:n.687-1338C>T
XM_011518176.3:c.1400C>T	XP_011516478.1:p.Ala467Val
XM_011518178.2:c.1049C>T	XP_011516480.1:p.Ala350Val
XM_017014232.1:c.2372C>T	XP_016869721.1:p.Ala791Val
XM_017014233.1:c.1994C>T	XP_016869722.1:p.Ala665Val
XM_017014234.2:c.1394C>T	XP_016869723.1:p.Ala465Val
XM_017014235.1:c.2234+782C>T	XP_016869724.1:n.2234+782C>T
XR_001746171.1:n.3194-1338C>T
NM_139026.5:c.2291C>T	NP_620595.1:p.Ala764Val
NM_139027.5:c.2384C>T	NP_620596.2:p.Ala795Val
NM_139025.5:c.2384C>T	NP_620594.1:p.Ala795Val
NM_139026.6:c.2291C>T	NP_620595.1:p.Ala764Val
NM_139027.6:c.2384C>T MANE Select	NP_620596.2:p.Ala795Val
NR_024514.3:n.1258-1338C>T