Canonical Allele Identifier: CA375391710

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1554789211
• gnomAD v4: 9-133436902-C-T
• MyVariant Identifiers: chr9:g.133436902C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1382C>T MANE Select	ENSP00000347927.2:p.Ser461Phe
ENST00000355699.6:c.1382C>T	ENSP00000347927.2:p.Ser461Phe
ENST00000356589.6:c.1289C>T	ENSP00000348997.2:p.Ser430Phe
ENST00000371916.5:c.638C>T	ENSP00000360984.2:p.Ser213Phe
ENST00000371929.7:c.1382C>T	ENSP00000360997.3:p.Ser461Phe
ENST00000474918.1:c.*186C>T	ENSP00000435305.1:n.*186C>T
ENST00000485925.5:n.974-2464C>T
ENST00000495234.5:c.*666C>T	ENSP00000435274.1:n.*666C>T
NM_139025.4:c.1382C>T , LRG_544t1:c.1382C>T	NP_620594.1:p.Ser461Phe
NM_139026.4:c.1289C>T	NP_620595.1:p.Ser430Phe
NM_139027.4:c.1382C>T	NP_620596.2:p.Ser461Phe
NR_024514.2:n.993-2464C>T
XM_011518174.1:c.992C>T	XP_011516476.1:p.Ser331Phe
XM_011518175.1:c.1382C>T	XP_011516477.1:p.Ser461Phe
XM_011518176.1:c.398C>T	XP_011516478.1:p.Ser133Phe
XM_011518177.1:c.392C>T	XP_011516479.1:p.Ser131Phe
XM_011518178.1:c.47C>T	XP_011516480.1:p.Ser16Phe
XM_011518179.1:c.168C>T	XP_011516481.1:p.Leu56=
XM_011518180.1:c.687-7961C>T	XP_011516482.1:n.687-7961C>T
XM_011518176.3:c.398C>T	XP_011516478.1:p.Ser133Phe
XM_011518178.2:c.47C>T	XP_011516480.1:p.Ser16Phe
XM_017014232.1:c.1370C>T	XP_016869721.1:p.Ser457Phe
XM_017014233.1:c.992C>T	XP_016869722.1:p.Ser331Phe
XM_017014234.2:c.392C>T	XP_016869723.1:p.Ser131Phe
XM_017014235.1:c.1382C>T	XP_016869724.1:p.Ser461Phe
XR_001746171.1:n.2607C>T
NM_139026.5:c.1289C>T	NP_620595.1:p.Ser430Phe
NM_139027.5:c.1382C>T	NP_620596.2:p.Ser461Phe
NM_139025.5:c.1382C>T	NP_620594.1:p.Ser461Phe
NM_139026.6:c.1289C>T	NP_620595.1:p.Ser430Phe
NM_139027.6:c.1382C>T MANE Select	NP_620596.2:p.Ser461Phe
NR_024514.3:n.995-2464C>T