Canonical Allele Identifier: CA375391448

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436839A>G , CM000671.2:g.133436839A>G	GRCh38
NC_000009.10:g.135291780A>G	NCBI36
NG_011934.2:g.27501A>G , LRG_544:g.27501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1319A>G MANE Select	ENSP00000347927.2:p.Lys440Arg
ENST00000355699.6:c.1319A>G	ENSP00000347927.2:p.Lys440Arg
ENST00000356589.6:c.1226A>G	ENSP00000348997.2:p.Lys409Arg
ENST00000371916.5:c.575A>G	ENSP00000360984.2:p.Lys192Arg
ENST00000371929.7:c.1319A>G	ENSP00000360997.3:p.Lys440Arg
ENST00000474918.1:c.*123A>G	ENSP00000435305.1:n.*123A>G
ENST00000485925.5:n.974-2527A>G
ENST00000495234.5:c.*603A>G	ENSP00000435274.1:n.*603A>G
NM_139025.4:c.1319A>G , LRG_544t1:c.1319A>G	NP_620594.1:p.Lys440Arg
NM_139026.4:c.1226A>G	NP_620595.1:p.Lys409Arg
NM_139027.4:c.1319A>G	NP_620596.2:p.Lys440Arg
NR_024514.2:n.993-2527A>G
XM_011518174.1:c.929A>G	XP_011516476.1:p.Lys310Arg
XM_011518175.1:c.1319A>G	XP_011516477.1:p.Lys440Arg
XM_011518176.1:c.335A>G	XP_011516478.1:p.Lys112Arg
XM_011518177.1:c.329A>G	XP_011516479.1:p.Lys110Arg
XM_011518178.1:c.-17A>G	XP_011516480.1:n.-17A>G
XM_011518179.1:c.105A>G	XP_011516481.1:p.Glu35=
XM_011518180.1:c.687-8024A>G	XP_011516482.1:n.687-8024A>G
XM_011518176.3:c.335A>G	XP_011516478.1:p.Lys112Arg
XM_011518178.2:c.-17A>G	XP_011516480.1:n.-17A>G
XM_017014232.1:c.1307A>G	XP_016869721.1:p.Lys436Arg
XM_017014233.1:c.929A>G	XP_016869722.1:p.Lys310Arg
XM_017014234.2:c.329A>G	XP_016869723.1:p.Lys110Arg
XM_017014235.1:c.1319A>G	XP_016869724.1:p.Lys440Arg
XR_001746171.1:n.2544A>G
NM_139026.5:c.1226A>G	NP_620595.1:p.Lys409Arg
NM_139027.5:c.1319A>G	NP_620596.2:p.Lys440Arg
NM_139025.5:c.1319A>G	NP_620594.1:p.Lys440Arg
NM_139026.6:c.1226A>G	NP_620595.1:p.Lys409Arg
NM_139027.6:c.1319A>G MANE Select	NP_620596.2:p.Lys440Arg
NR_024514.3:n.995-2527A>G