Canonical Allele Identifier: CA375391707

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436902-C-A
• MyVariant Identifiers: chr9:g.133436902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436902C>A , CM000671.2:g.133436902C>A	GRCh38
NC_000009.10:g.135291843C>A	NCBI36
NG_011934.2:g.27564C>A , LRG_544:g.27564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1382C>A MANE Select	ENSP00000347927.2:p.Ser461Tyr
ENST00000355699.6:c.1382C>A	ENSP00000347927.2:p.Ser461Tyr
ENST00000356589.6:c.1289C>A	ENSP00000348997.2:p.Ser430Tyr
ENST00000371916.5:c.638C>A	ENSP00000360984.2:p.Ser213Tyr
ENST00000371929.7:c.1382C>A	ENSP00000360997.3:p.Ser461Tyr
ENST00000474918.1:c.*186C>A	ENSP00000435305.1:n.*186C>A
ENST00000485925.5:n.974-2464C>A
ENST00000495234.5:c.*666C>A	ENSP00000435274.1:n.*666C>A
NM_139025.4:c.1382C>A , LRG_544t1:c.1382C>A	NP_620594.1:p.Ser461Tyr
NM_139026.4:c.1289C>A	NP_620595.1:p.Ser430Tyr
NM_139027.4:c.1382C>A	NP_620596.2:p.Ser461Tyr
NR_024514.2:n.993-2464C>A
XM_011518174.1:c.992C>A	XP_011516476.1:p.Ser331Tyr
XM_011518175.1:c.1382C>A	XP_011516477.1:p.Ser461Tyr
XM_011518176.1:c.398C>A	XP_011516478.1:p.Ser133Tyr
XM_011518177.1:c.392C>A	XP_011516479.1:p.Ser131Tyr
XM_011518178.1:c.47C>A	XP_011516480.1:p.Ser16Tyr
XM_011518179.1:c.168C>A	XP_011516481.1:p.Leu56=
XM_011518180.1:c.687-7961C>A	XP_011516482.1:n.687-7961C>A
XM_011518176.3:c.398C>A	XP_011516478.1:p.Ser133Tyr
XM_011518178.2:c.47C>A	XP_011516480.1:p.Ser16Tyr
XM_017014232.1:c.1370C>A	XP_016869721.1:p.Ser457Tyr
XM_017014233.1:c.992C>A	XP_016869722.1:p.Ser331Tyr
XM_017014234.2:c.392C>A	XP_016869723.1:p.Ser131Tyr
XM_017014235.1:c.1382C>A	XP_016869724.1:p.Ser461Tyr
XR_001746171.1:n.2607C>A
NM_139026.5:c.1289C>A	NP_620595.1:p.Ser430Tyr
NM_139027.5:c.1382C>A	NP_620596.2:p.Ser461Tyr
NM_139025.5:c.1382C>A	NP_620594.1:p.Ser461Tyr
NM_139026.6:c.1289C>A	NP_620595.1:p.Ser430Tyr
NM_139027.6:c.1382C>A MANE Select	NP_620596.2:p.Ser461Tyr
NR_024514.3:n.995-2464C>A