Canonical Allele Identifier: CA117757

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 5804
• ClinVar RCV Id: RCV000006160 ; RCV003480021
• dbSNP Id: rs121908473
• gnomAD v4: 9-133437895-A-G
• MyVariant Identifiers: chr9:g.133437895A>G (hg38)
• PubMed: PMID:11586351

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437895A>G , CM000671.2:g.133437895A>G	GRCh38
NC_000009.10:g.135292836A>G	NCBI36
NG_011934.2:g.28557A>G , LRG_544:g.28557A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1582A>G MANE Select	ENSP00000347927.2:p.Arg528Gly
ENST00000355699.6:c.1582A>G	ENSP00000347927.2:p.Arg528Gly
ENST00000356589.6:c.1489A>G	ENSP00000348997.2:p.Arg497Gly
ENST00000371916.5:c.838A>G	ENSP00000360984.2:p.Arg280Gly
ENST00000371929.7:c.1582A>G	ENSP00000360997.3:p.Arg528Gly
ENST00000474918.1:c.*386A>G	ENSP00000435305.1:n.*386A>G
ENST00000485925.5:n.974-1471A>G
ENST00000495234.5:c.*866A>G	ENSP00000435274.1:n.*866A>G
NM_139025.4:c.1582A>G , LRG_544t1:c.1582A>G	NP_620594.1:p.Arg528Gly
NM_139026.4:c.1489A>G	NP_620595.1:p.Arg497Gly
NM_139027.4:c.1582A>G	NP_620596.2:p.Arg528Gly
NR_024514.2:n.993-1471A>G
XM_011518174.1:c.1192A>G	XP_011516476.1:p.Arg398Gly
XM_011518175.1:c.1582A>G	XP_011516477.1:p.Arg528Gly
XM_011518176.1:c.598A>G	XP_011516478.1:p.Arg200Gly
XM_011518177.1:c.592A>G	XP_011516479.1:p.Arg198Gly
XM_011518178.1:c.247A>G	XP_011516480.1:p.Arg83Gly
XM_011518179.1:c.368A>G	XP_011516481.1:p.Gln123Arg
XM_011518180.1:c.687-6968A>G	XP_011516482.1:n.687-6968A>G
XM_011518176.3:c.598A>G	XP_011516478.1:p.Arg200Gly
XM_011518178.2:c.247A>G	XP_011516480.1:p.Arg83Gly
XM_017014232.1:c.1570A>G	XP_016869721.1:p.Arg524Gly
XM_017014233.1:c.1192A>G	XP_016869722.1:p.Arg398Gly
XM_017014234.2:c.592A>G	XP_016869723.1:p.Arg198Gly
XM_017014235.1:c.1582A>G	XP_016869724.1:p.Arg528Gly
XR_001746171.1:n.2807A>G
NM_139026.5:c.1489A>G	NP_620595.1:p.Arg497Gly
NM_139027.5:c.1582A>G	NP_620596.2:p.Arg528Gly
NM_139025.5:c.1582A>G	NP_620594.1:p.Arg528Gly
NM_139026.6:c.1489A>G	NP_620595.1:p.Arg497Gly
NM_139027.6:c.1582A>G MANE Select	NP_620596.2:p.Arg528Gly
NR_024514.3:n.995-1471A>G