Canonical Allele Identifier: CA375410876

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454599-C-A
• MyVariant Identifiers: chr9:g.133454599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454599C>A , CM000671.2:g.133454599C>A	GRCh38
NC_000009.10:g.135309542C>A	NCBI36
NG_011934.2:g.45261C>A , LRG_544:g.45261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3229C>A MANE Select	ENSP00000347927.2:p.His1077Asn
ENST00000355699.6:c.3229C>A	ENSP00000347927.2:p.His1077Asn
ENST00000356589.6:c.3136C>A	ENSP00000348997.2:p.His1046Asn
ENST00000371916.5:c.*698C>A	ENSP00000360984.2:n.*698C>A
ENST00000371929.7:c.3229C>A	ENSP00000360997.3:p.His1077Asn
ENST00000485925.5:n.2045C>A
NM_139025.4:c.3229C>A , LRG_544t1:c.3229C>A	NP_620594.1:p.His1077Asn
NM_139026.4:c.3136C>A	NP_620595.1:p.His1046Asn
NM_139027.4:c.3229C>A	NP_620596.2:p.His1077Asn
NR_024514.2:n.2064C>A
XM_011518174.1:c.2839C>A	XP_011516476.1:p.His947Asn
XM_011518175.1:c.3229C>A	XP_011516477.1:p.His1077Asn
XM_011518176.1:c.2245C>A	XP_011516478.1:p.His749Asn
XM_011518177.1:c.2239C>A	XP_011516479.1:p.His747Asn
XM_011518178.1:c.1894C>A	XP_011516480.1:p.His632Asn
XM_011518179.1:c.1894C>A	XP_011516481.1:p.His632Asn
XM_011518180.1:c.1495C>A	XP_011516482.1:p.His499Asn
XM_011518176.3:c.2245C>A	XP_011516478.1:p.His749Asn
XM_011518178.2:c.1894C>A	XP_011516480.1:p.His632Asn
XM_017014232.1:c.3217C>A	XP_016869721.1:p.His1073Asn
XM_017014233.1:c.2839C>A	XP_016869722.1:p.His947Asn
XM_017014234.2:c.2239C>A	XP_016869723.1:p.His747Asn
NM_139026.5:c.3136C>A	NP_620595.1:p.His1046Asn
NM_139027.5:c.3229C>A	NP_620596.2:p.His1077Asn
NM_139025.5:c.3229C>A	NP_620594.1:p.His1077Asn
NM_139026.6:c.3136C>A	NP_620595.1:p.His1046Asn
NM_139027.6:c.3229C>A MANE Select	NP_620596.2:p.His1077Asn
NR_024514.3:n.2066C>A