Canonical Allele Identifier: CA375410262

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454485T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454485T>A , CM000671.2:g.133454485T>A	GRCh38
NC_000009.10:g.135309428T>A	NCBI36
NG_011934.2:g.45147T>A , LRG_544:g.45147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3115T>A MANE Select	ENSP00000347927.2:p.Cys1039Ser
ENST00000355699.6:c.3115T>A	ENSP00000347927.2:p.Cys1039Ser
ENST00000356589.6:c.3022T>A	ENSP00000348997.2:p.Cys1008Ser
ENST00000371916.5:c.*584T>A	ENSP00000360984.2:n.*584T>A
ENST00000371929.7:c.3115T>A	ENSP00000360997.3:p.Cys1039Ser
ENST00000485925.5:n.1931T>A
NM_139025.4:c.3115T>A , LRG_544t1:c.3115T>A	NP_620594.1:p.Cys1039Ser
NM_139026.4:c.3022T>A	NP_620595.1:p.Cys1008Ser
NM_139027.4:c.3115T>A	NP_620596.2:p.Cys1039Ser
NR_024514.2:n.1950T>A
XM_011518174.1:c.2725T>A	XP_011516476.1:p.Cys909Ser
XM_011518175.1:c.3115T>A	XP_011516477.1:p.Cys1039Ser
XM_011518176.1:c.2131T>A	XP_011516478.1:p.Cys711Ser
XM_011518177.1:c.2125T>A	XP_011516479.1:p.Cys709Ser
XM_011518178.1:c.1780T>A	XP_011516480.1:p.Cys594Ser
XM_011518179.1:c.1780T>A	XP_011516481.1:p.Cys594Ser
XM_011518180.1:c.1381T>A	XP_011516482.1:p.Cys461Ser
XM_011518176.3:c.2131T>A	XP_011516478.1:p.Cys711Ser
XM_011518178.2:c.1780T>A	XP_011516480.1:p.Cys594Ser
XM_017014232.1:c.3103T>A	XP_016869721.1:p.Cys1035Ser
XM_017014233.1:c.2725T>A	XP_016869722.1:p.Cys909Ser
XM_017014234.2:c.2125T>A	XP_016869723.1:p.Cys709Ser
NM_139026.5:c.3022T>A	NP_620595.1:p.Cys1008Ser
NM_139027.5:c.3115T>A	NP_620596.2:p.Cys1039Ser
NM_139025.5:c.3115T>A	NP_620594.1:p.Cys1039Ser
NM_139026.6:c.3022T>A	NP_620595.1:p.Cys1008Ser
NM_139027.6:c.3115T>A MANE Select	NP_620596.2:p.Cys1039Ser
NR_024514.3:n.1952T>A