Canonical Allele Identifier: CA375410275

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454487T>G , CM000671.2:g.133454487T>G	GRCh38
NC_000009.10:g.135309430T>G	NCBI36
NG_011934.2:g.45149T>G , LRG_544:g.45149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3117T>G MANE Select	ENSP00000347927.2:p.Cys1039Trp
ENST00000355699.6:c.3117T>G	ENSP00000347927.2:p.Cys1039Trp
ENST00000356589.6:c.3024T>G	ENSP00000348997.2:p.Cys1008Trp
ENST00000371916.5:c.*586T>G	ENSP00000360984.2:n.*586T>G
ENST00000371929.7:c.3117T>G	ENSP00000360997.3:p.Cys1039Trp
ENST00000485925.5:n.1933T>G
NM_139025.4:c.3117T>G , LRG_544t1:c.3117T>G	NP_620594.1:p.Cys1039Trp
NM_139026.4:c.3024T>G	NP_620595.1:p.Cys1008Trp
NM_139027.4:c.3117T>G	NP_620596.2:p.Cys1039Trp
NR_024514.2:n.1952T>G
XM_011518174.1:c.2727T>G	XP_011516476.1:p.Cys909Trp
XM_011518175.1:c.3117T>G	XP_011516477.1:p.Cys1039Trp
XM_011518176.1:c.2133T>G	XP_011516478.1:p.Cys711Trp
XM_011518177.1:c.2127T>G	XP_011516479.1:p.Cys709Trp
XM_011518178.1:c.1782T>G	XP_011516480.1:p.Cys594Trp
XM_011518179.1:c.1782T>G	XP_011516481.1:p.Cys594Trp
XM_011518180.1:c.1383T>G	XP_011516482.1:p.Cys461Trp
XM_011518176.3:c.2133T>G	XP_011516478.1:p.Cys711Trp
XM_011518178.2:c.1782T>G	XP_011516480.1:p.Cys594Trp
XM_017014232.1:c.3105T>G	XP_016869721.1:p.Cys1035Trp
XM_017014233.1:c.2727T>G	XP_016869722.1:p.Cys909Trp
XM_017014234.2:c.2127T>G	XP_016869723.1:p.Cys709Trp
NM_139026.5:c.3024T>G	NP_620595.1:p.Cys1008Trp
NM_139027.5:c.3117T>G	NP_620596.2:p.Cys1039Trp
NM_139025.5:c.3117T>G	NP_620594.1:p.Cys1039Trp
NM_139026.6:c.3024T>G	NP_620595.1:p.Cys1008Trp
NM_139027.6:c.3117T>G MANE Select	NP_620596.2:p.Cys1039Trp
NR_024514.3:n.1954T>G