Canonical Allele Identifier: CA10587032

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 262426
• ClinVar RCV Id: RCV000246702 ; RCV000375633 ; RCV000972467
• dbSNP Id: rs36220239
• gnomAD v3: 9-133436888-G-T
• gnomAD v4: 9-133436888-G-T
• MyVariant Identifiers: chr9:g.133436888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436888G>T , CM000671.2:g.133436888G>T	GRCh38
NC_000009.10:g.135291829G>T	NCBI36
NG_011934.2:g.27550G>T , LRG_544:g.27550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1368G>T MANE Select	ENSP00000347927.2:p.Gln456His
ENST00000355699.6:c.1368G>T	ENSP00000347927.2:p.Gln456His
ENST00000356589.6:c.1275G>T	ENSP00000348997.2:p.Gln425His
ENST00000371916.5:c.624G>T	ENSP00000360984.2:p.Gln208His
ENST00000371929.7:c.1368G>T	ENSP00000360997.3:p.Gln456His
ENST00000474918.1:c.*172G>T	ENSP00000435305.1:n.*172G>T
ENST00000485925.5:n.974-2478G>T
ENST00000495234.5:c.*652G>T	ENSP00000435274.1:n.*652G>T
NM_139025.4:c.1368G>T , LRG_544t1:c.1368G>T	NP_620594.1:p.Gln456His
NM_139026.4:c.1275G>T	NP_620595.1:p.Gln425His
NM_139027.4:c.1368G>T	NP_620596.2:p.Gln456His
NR_024514.2:n.993-2478G>T
XM_011518174.1:c.978G>T	XP_011516476.1:p.Gln326His
XM_011518175.1:c.1368G>T	XP_011516477.1:p.Gln456His
XM_011518176.1:c.384G>T	XP_011516478.1:p.Gln128His
XM_011518177.1:c.378G>T	XP_011516479.1:p.Gln126His
XM_011518178.1:c.33G>T	XP_011516480.1:p.Gln11His
XM_011518179.1:c.154G>T	XP_011516481.1:p.Ala52Ser
XM_011518180.1:c.687-7975G>T	XP_011516482.1:n.687-7975G>T
XM_011518176.3:c.384G>T	XP_011516478.1:p.Gln128His
XM_011518178.2:c.33G>T	XP_011516480.1:p.Gln11His
XM_017014232.1:c.1356G>T	XP_016869721.1:p.Gln452His
XM_017014233.1:c.978G>T	XP_016869722.1:p.Gln326His
XM_017014234.2:c.378G>T	XP_016869723.1:p.Gln126His
XM_017014235.1:c.1368G>T	XP_016869724.1:p.Gln456His
XR_001746171.1:n.2593G>T
NM_139026.5:c.1275G>T	NP_620595.1:p.Gln425His
NM_139027.5:c.1368G>T	NP_620596.2:p.Gln456His
NM_139025.5:c.1368G>T	NP_620594.1:p.Gln456His
NM_139026.6:c.1275G>T	NP_620595.1:p.Gln425His
NM_139027.6:c.1368G>T MANE Select	NP_620596.2:p.Gln456His
NR_024514.3:n.995-2478G>T