Canonical Allele Identifier: CA375391565

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436867G>T , CM000671.2:g.133436867G>T	GRCh38
NC_000009.10:g.135291808G>T	NCBI36
NG_011934.2:g.27529G>T , LRG_544:g.27529G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1347G>T MANE Select	ENSP00000347927.2:p.Gln449His
ENST00000355699.6:c.1347G>T	ENSP00000347927.2:p.Gln449His
ENST00000356589.6:c.1254G>T	ENSP00000348997.2:p.Gln418His
ENST00000371916.5:c.603G>T	ENSP00000360984.2:p.Gln201His
ENST00000371929.7:c.1347G>T	ENSP00000360997.3:p.Gln449His
ENST00000474918.1:c.*151G>T	ENSP00000435305.1:n.*151G>T
ENST00000485925.5:n.974-2499G>T
ENST00000495234.5:c.*631G>T	ENSP00000435274.1:n.*631G>T
NM_139025.4:c.1347G>T , LRG_544t1:c.1347G>T	NP_620594.1:p.Gln449His
NM_139026.4:c.1254G>T	NP_620595.1:p.Gln418His
NM_139027.4:c.1347G>T	NP_620596.2:p.Gln449His
NR_024514.2:n.993-2499G>T
XM_011518174.1:c.957G>T	XP_011516476.1:p.Gln319His
XM_011518175.1:c.1347G>T	XP_011516477.1:p.Gln449His
XM_011518176.1:c.363G>T	XP_011516478.1:p.Gln121His
XM_011518177.1:c.357G>T	XP_011516479.1:p.Gln119His
XM_011518178.1:c.12G>T	XP_011516480.1:p.Gln4His
XM_011518179.1:c.133G>T	XP_011516481.1:p.Val45Leu
XM_011518180.1:c.687-7996G>T	XP_011516482.1:n.687-7996G>T
XM_011518176.3:c.363G>T	XP_011516478.1:p.Gln121His
XM_011518178.2:c.12G>T	XP_011516480.1:p.Gln4His
XM_017014232.1:c.1335G>T	XP_016869721.1:p.Gln445His
XM_017014233.1:c.957G>T	XP_016869722.1:p.Gln319His
XM_017014234.2:c.357G>T	XP_016869723.1:p.Gln119His
XM_017014235.1:c.1347G>T	XP_016869724.1:p.Gln449His
XR_001746171.1:n.2572G>T
NM_139026.5:c.1254G>T	NP_620595.1:p.Gln418His
NM_139027.5:c.1347G>T	NP_620596.2:p.Gln449His
NM_139025.5:c.1347G>T	NP_620594.1:p.Gln449His
NM_139026.6:c.1254G>T	NP_620595.1:p.Gln418His
NM_139027.6:c.1347G>T MANE Select	NP_620596.2:p.Gln449His
NR_024514.3:n.995-2499G>T