Canonical Allele Identifier: CA375391779

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436919T>G , CM000671.2:g.133436919T>G	GRCh38
NC_000009.10:g.135291860T>G	NCBI36
NG_011934.2:g.27581T>G , LRG_544:g.27581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1399T>G MANE Select	ENSP00000347927.2:p.Phe467Val
ENST00000355699.6:c.1399T>G	ENSP00000347927.2:p.Phe467Val
ENST00000356589.6:c.1306T>G	ENSP00000348997.2:p.Phe436Val
ENST00000371916.5:c.655T>G	ENSP00000360984.2:p.Phe219Val
ENST00000371929.7:c.1399T>G	ENSP00000360997.3:p.Phe467Val
ENST00000474918.1:c.*203T>G	ENSP00000435305.1:n.*203T>G
ENST00000485925.5:n.974-2447T>G
ENST00000495234.5:c.*683T>G	ENSP00000435274.1:n.*683T>G
NM_139025.4:c.1399T>G , LRG_544t1:c.1399T>G	NP_620594.1:p.Phe467Val
NM_139026.4:c.1306T>G	NP_620595.1:p.Phe436Val
NM_139027.4:c.1399T>G	NP_620596.2:p.Phe467Val
NR_024514.2:n.993-2447T>G
XM_011518174.1:c.1009T>G	XP_011516476.1:p.Phe337Val
XM_011518175.1:c.1399T>G	XP_011516477.1:p.Phe467Val
XM_011518176.1:c.415T>G	XP_011516478.1:p.Phe139Val
XM_011518177.1:c.409T>G	XP_011516479.1:p.Phe137Val
XM_011518178.1:c.64T>G	XP_011516480.1:p.Phe22Val
XM_011518179.1:c.185T>G	XP_011516481.1:p.Leu62Arg
XM_011518180.1:c.687-7944T>G	XP_011516482.1:n.687-7944T>G
XM_011518176.3:c.415T>G	XP_011516478.1:p.Phe139Val
XM_011518178.2:c.64T>G	XP_011516480.1:p.Phe22Val
XM_017014232.1:c.1387T>G	XP_016869721.1:p.Phe463Val
XM_017014233.1:c.1009T>G	XP_016869722.1:p.Phe337Val
XM_017014234.2:c.409T>G	XP_016869723.1:p.Phe137Val
XM_017014235.1:c.1399T>G	XP_016869724.1:p.Phe467Val
XR_001746171.1:n.2624T>G
NM_139026.5:c.1306T>G	NP_620595.1:p.Phe436Val
NM_139027.5:c.1399T>G	NP_620596.2:p.Phe467Val
NM_139025.5:c.1399T>G	NP_620594.1:p.Phe467Val
NM_139026.6:c.1306T>G	NP_620595.1:p.Phe436Val
NM_139027.6:c.1399T>G MANE Select	NP_620596.2:p.Phe467Val
NR_024514.3:n.995-2447T>G