Canonical Allele Identifier: CA375391614

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436877-A-T
• MyVariant Identifiers: chr9:g.133436877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436877A>T , CM000671.2:g.133436877A>T	GRCh38
NC_000009.10:g.135291818A>T	NCBI36
NG_011934.2:g.27539A>T , LRG_544:g.27539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1357A>T MANE Select	ENSP00000347927.2:p.Thr453Ser
ENST00000355699.6:c.1357A>T	ENSP00000347927.2:p.Thr453Ser
ENST00000356589.6:c.1264A>T	ENSP00000348997.2:p.Thr422Ser
ENST00000371916.5:c.613A>T	ENSP00000360984.2:p.Thr205Ser
ENST00000371929.7:c.1357A>T	ENSP00000360997.3:p.Thr453Ser
ENST00000474918.1:c.*161A>T	ENSP00000435305.1:n.*161A>T
ENST00000485925.5:n.974-2489A>T
ENST00000495234.5:c.*641A>T	ENSP00000435274.1:n.*641A>T
NM_139025.4:c.1357A>T , LRG_544t1:c.1357A>T	NP_620594.1:p.Thr453Ser
NM_139026.4:c.1264A>T	NP_620595.1:p.Thr422Ser
NM_139027.4:c.1357A>T	NP_620596.2:p.Thr453Ser
NR_024514.2:n.993-2489A>T
XM_011518174.1:c.967A>T	XP_011516476.1:p.Thr323Ser
XM_011518175.1:c.1357A>T	XP_011516477.1:p.Thr453Ser
XM_011518176.1:c.373A>T	XP_011516478.1:p.Thr125Ser
XM_011518177.1:c.367A>T	XP_011516479.1:p.Thr123Ser
XM_011518178.1:c.22A>T	XP_011516480.1:p.Thr8Ser
XM_011518179.1:c.143A>T	XP_011516481.1:p.Asp48Val
XM_011518180.1:c.687-7986A>T	XP_011516482.1:n.687-7986A>T
XM_011518176.3:c.373A>T	XP_011516478.1:p.Thr125Ser
XM_011518178.2:c.22A>T	XP_011516480.1:p.Thr8Ser
XM_017014232.1:c.1345A>T	XP_016869721.1:p.Thr449Ser
XM_017014233.1:c.967A>T	XP_016869722.1:p.Thr323Ser
XM_017014234.2:c.367A>T	XP_016869723.1:p.Thr123Ser
XM_017014235.1:c.1357A>T	XP_016869724.1:p.Thr453Ser
XR_001746171.1:n.2582A>T
NM_139026.5:c.1264A>T	NP_620595.1:p.Thr422Ser
NM_139027.5:c.1357A>T	NP_620596.2:p.Thr453Ser
NM_139025.5:c.1357A>T	NP_620594.1:p.Thr453Ser
NM_139026.6:c.1264A>T	NP_620595.1:p.Thr422Ser
NM_139027.6:c.1357A>T MANE Select	NP_620596.2:p.Thr453Ser
NR_024514.3:n.995-2489A>T