Canonical Allele Identifier: CA375391790

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436922T>A , CM000671.2:g.133436922T>A	GRCh38
NC_000009.10:g.135291863T>A	NCBI36
NG_011934.2:g.27584T>A , LRG_544:g.27584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1402T>A MANE Select	ENSP00000347927.2:p.Tyr468Asn
ENST00000355699.6:c.1402T>A	ENSP00000347927.2:p.Tyr468Asn
ENST00000356589.6:c.1309T>A	ENSP00000348997.2:p.Tyr437Asn
ENST00000371916.5:c.658T>A	ENSP00000360984.2:p.Tyr220Asn
ENST00000371929.7:c.1402T>A	ENSP00000360997.3:p.Tyr468Asn
ENST00000474918.1:c.*206T>A	ENSP00000435305.1:n.*206T>A
ENST00000485925.5:n.974-2444T>A
ENST00000495234.5:c.*686T>A	ENSP00000435274.1:n.*686T>A
NM_139025.4:c.1402T>A , LRG_544t1:c.1402T>A	NP_620594.1:p.Tyr468Asn
NM_139026.4:c.1309T>A	NP_620595.1:p.Tyr437Asn
NM_139027.4:c.1402T>A	NP_620596.2:p.Tyr468Asn
NR_024514.2:n.993-2444T>A
XM_011518174.1:c.1012T>A	XP_011516476.1:p.Tyr338Asn
XM_011518175.1:c.1402T>A	XP_011516477.1:p.Tyr468Asn
XM_011518176.1:c.418T>A	XP_011516478.1:p.Tyr140Asn
XM_011518177.1:c.412T>A	XP_011516479.1:p.Tyr138Asn
XM_011518178.1:c.67T>A	XP_011516480.1:p.Tyr23Asn
XM_011518179.1:c.188T>A	XP_011516481.1:p.Leu63Gln
XM_011518180.1:c.687-7941T>A	XP_011516482.1:n.687-7941T>A
XM_011518176.3:c.418T>A	XP_011516478.1:p.Tyr140Asn
XM_011518178.2:c.67T>A	XP_011516480.1:p.Tyr23Asn
XM_017014232.1:c.1390T>A	XP_016869721.1:p.Tyr464Asn
XM_017014233.1:c.1012T>A	XP_016869722.1:p.Tyr338Asn
XM_017014234.2:c.412T>A	XP_016869723.1:p.Tyr138Asn
XM_017014235.1:c.1402T>A	XP_016869724.1:p.Tyr468Asn
XR_001746171.1:n.2627T>A
NM_139026.5:c.1309T>A	NP_620595.1:p.Tyr437Asn
NM_139027.5:c.1402T>A	NP_620596.2:p.Tyr468Asn
NM_139025.5:c.1402T>A	NP_620594.1:p.Tyr468Asn
NM_139026.6:c.1309T>A	NP_620595.1:p.Tyr437Asn
NM_139027.6:c.1402T>A MANE Select	NP_620596.2:p.Tyr468Asn
NR_024514.3:n.995-2444T>A