Canonical Allele Identifier: CA200943195

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 914273
• ClinVar RCV Id: RCV001168359 ; RCV002558664
• dbSNP Id: rs587731517
• gnomAD v3: 9-133454549-G-A
• gnomAD v4: 9-133454549-G-A
• COSMIC: COSM4659465
• MyVariant Identifiers: chr9:g.133454549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454549G>A , CM000671.2:g.133454549G>A	GRCh38
NC_000009.10:g.135309492G>A	NCBI36
NG_011934.2:g.45211G>A , LRG_544:g.45211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3179G>A MANE Select	ENSP00000347927.2:p.Arg1060Gln
ENST00000355699.6:c.3179G>A	ENSP00000347927.2:p.Arg1060Gln
ENST00000356589.6:c.3086G>A	ENSP00000348997.2:p.Arg1029Gln
ENST00000371916.5:c.*648G>A	ENSP00000360984.2:n.*648G>A
ENST00000371929.7:c.3179G>A	ENSP00000360997.3:p.Arg1060Gln
ENST00000485925.5:n.1995G>A
NM_139025.4:c.3179G>A , LRG_544t1:c.3179G>A	NP_620594.1:p.Arg1060Gln
NM_139026.4:c.3086G>A	NP_620595.1:p.Arg1029Gln
NM_139027.4:c.3179G>A	NP_620596.2:p.Arg1060Gln
NR_024514.2:n.2014G>A
XM_011518174.1:c.2789G>A	XP_011516476.1:p.Arg930Gln
XM_011518175.1:c.3179G>A	XP_011516477.1:p.Arg1060Gln
XM_011518176.1:c.2195G>A	XP_011516478.1:p.Arg732Gln
XM_011518177.1:c.2189G>A	XP_011516479.1:p.Arg730Gln
XM_011518178.1:c.1844G>A	XP_011516480.1:p.Arg615Gln
XM_011518179.1:c.1844G>A	XP_011516481.1:p.Arg615Gln
XM_011518180.1:c.1445G>A	XP_011516482.1:p.Arg482Gln
XM_011518176.3:c.2195G>A	XP_011516478.1:p.Arg732Gln
XM_011518178.2:c.1844G>A	XP_011516480.1:p.Arg615Gln
XM_017014232.1:c.3167G>A	XP_016869721.1:p.Arg1056Gln
XM_017014233.1:c.2789G>A	XP_016869722.1:p.Arg930Gln
XM_017014234.2:c.2189G>A	XP_016869723.1:p.Arg730Gln
NM_139026.5:c.3086G>A	NP_620595.1:p.Arg1029Gln
NM_139027.5:c.3179G>A	NP_620596.2:p.Arg1060Gln
NM_139025.5:c.3179G>A	NP_620594.1:p.Arg1060Gln
NM_139026.6:c.3086G>A	NP_620595.1:p.Arg1029Gln
NM_139027.6:c.3179G>A MANE Select	NP_620596.2:p.Arg1060Gln
NR_024514.3:n.2016G>A