Canonical Allele Identifier: CA375415228

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456151T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456151T>G , CM000671.2:g.133456151T>G	GRCh38
NC_000009.10:g.135311094T>G	NCBI36
NG_011934.2:g.46813T>G , LRG_544:g.46813T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3483T>G MANE Select	ENSP00000347927.2:p.Ile1161Met
ENST00000355699.6:c.3483T>G	ENSP00000347927.2:p.Ile1161Met
ENST00000356589.6:c.3390T>G	ENSP00000348997.2:p.Ile1130Met
ENST00000371910.1:c.39T>G	ENSP00000360978.1:p.Ile13Met
ENST00000371916.5:c.*952T>G	ENSP00000360984.2:n.*952T>G
ENST00000371929.7:c.3651T>G	ENSP00000360997.3:p.Ile1217Met
ENST00000485925.5:n.2299T>G
NM_139025.4:c.3651T>G , LRG_544t1:c.3651T>G	NP_620594.1:p.Ile1217Met
NM_139026.4:c.3390T>G	NP_620595.1:p.Ile1130Met
NM_139027.4:c.3483T>G	NP_620596.2:p.Ile1161Met
NR_024514.2:n.2318T>G
XM_011518174.1:c.3261T>G	XP_011516476.1:p.Ile1087Met
XM_011518175.1:c.*58T>G	XP_011516477.1:n.*58T>G
XM_011518176.1:c.2667T>G	XP_011516478.1:p.Ile889Met
XM_011518177.1:c.2661T>G	XP_011516479.1:p.Ile887Met
XM_011518178.1:c.2316T>G	XP_011516480.1:p.Ile772Met
XM_011518179.1:c.2316T>G	XP_011516481.1:p.Ile772Met
XM_011518180.1:c.1917T>G	XP_011516482.1:p.Ile639Met
XM_011518176.3:c.2667T>G	XP_011516478.1:p.Ile889Met
XM_011518178.2:c.2316T>G	XP_011516480.1:p.Ile772Met
XM_017014232.1:c.3639T>G	XP_016869721.1:p.Ile1213Met
XM_017014233.1:c.3261T>G	XP_016869722.1:p.Ile1087Met
XM_017014234.2:c.2661T>G	XP_016869723.1:p.Ile887Met
NM_139026.5:c.3390T>G	NP_620595.1:p.Ile1130Met
NM_139027.5:c.3483T>G	NP_620596.2:p.Ile1161Met
NM_139025.5:c.3651T>G	NP_620594.1:p.Ile1217Met
NM_139026.6:c.3390T>G	NP_620595.1:p.Ile1130Met
NM_139027.6:c.3483T>G MANE Select	NP_620596.2:p.Ile1161Met
NR_024514.3:n.2320T>G