Canonical Allele Identifier: CA375391912

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 2683075
• ClinVar RCV Id: RCV003481942
• dbSNP Id: rs1554789261
• gnomAD v4: 9-133436952-C-G
• MyVariant Identifiers: chr9:g.133436952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436952C>G , CM000671.2:g.133436952C>G	GRCh38
NC_000009.10:g.135291893C>G	NCBI36
NG_011934.2:g.27614C>G , LRG_544:g.27614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1432C>G MANE Select	ENSP00000347927.2:p.Gln478Glu
ENST00000355699.6:c.1432C>G	ENSP00000347927.2:p.Gln478Glu
ENST00000356589.6:c.1339C>G	ENSP00000348997.2:p.Gln447Glu
ENST00000371916.5:c.688C>G	ENSP00000360984.2:p.Gln230Glu
ENST00000371929.7:c.1432C>G	ENSP00000360997.3:p.Gln478Glu
ENST00000474918.1:c.*236C>G	ENSP00000435305.1:n.*236C>G
ENST00000485925.5:n.974-2414C>G
ENST00000495234.5:c.*716C>G	ENSP00000435274.1:n.*716C>G
NM_139025.4:c.1432C>G , LRG_544t1:c.1432C>G	NP_620594.1:p.Gln478Glu
NM_139026.4:c.1339C>G	NP_620595.1:p.Gln447Glu
NM_139027.4:c.1432C>G	NP_620596.2:p.Gln478Glu
NR_024514.2:n.993-2414C>G
XM_011518174.1:c.1042C>G	XP_011516476.1:p.Gln348Glu
XM_011518175.1:c.1432C>G	XP_011516477.1:p.Gln478Glu
XM_011518176.1:c.448C>G	XP_011516478.1:p.Gln150Glu
XM_011518177.1:c.442C>G	XP_011516479.1:p.Gln148Glu
XM_011518178.1:c.97C>G	XP_011516480.1:p.Gln33Glu
XM_011518179.1:c.218C>G	XP_011516481.1:p.Pro73Arg
XM_011518180.1:c.687-7911C>G	XP_011516482.1:n.687-7911C>G
XM_011518176.3:c.448C>G	XP_011516478.1:p.Gln150Glu
XM_011518178.2:c.97C>G	XP_011516480.1:p.Gln33Glu
XM_017014232.1:c.1420C>G	XP_016869721.1:p.Gln474Glu
XM_017014233.1:c.1042C>G	XP_016869722.1:p.Gln348Glu
XM_017014234.2:c.442C>G	XP_016869723.1:p.Gln148Glu
XM_017014235.1:c.1432C>G	XP_016869724.1:p.Gln478Glu
XR_001746171.1:n.2657C>G
NM_139026.5:c.1339C>G	NP_620595.1:p.Gln447Glu
NM_139027.5:c.1432C>G	NP_620596.2:p.Gln478Glu
NM_139025.5:c.1432C>G	NP_620594.1:p.Gln478Glu
NM_139026.6:c.1339C>G	NP_620595.1:p.Gln447Glu
NM_139027.6:c.1432C>G MANE Select	NP_620596.2:p.Gln478Glu
NR_024514.3:n.995-2414C>G