Canonical Allele Identifier: CA1129739681

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1255459402
• gnomAD v3: 9-133443424-C-A
• gnomAD v4: 9-133443424-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443424C>A , CM000671.2:g.133443424C>A	GRCh38
NC_000009.10:g.135298366C>A	NCBI36
NG_011934.2:g.34086C>A , LRG_544:g.34086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2283C>A MANE Select	ENSP00000347927.2:p.Gly761=
ENST00000355699.6:c.2283C>A	ENSP00000347927.2:p.Gly761=
ENST00000356589.6:c.2190C>A	ENSP00000348997.2:p.Gly730=
ENST00000371916.5:c.1225-1439C>A	ENSP00000360984.2:n.1225-1439C>A
ENST00000371929.7:c.2283C>A	ENSP00000360997.3:p.Gly761=
ENST00000474918.1:c.*821C>A	ENSP00000435305.1:n.*821C>A
ENST00000485925.5:n.1237-1439C>A
ENST00000495234.5:c.*1253-1439C>A	ENSP00000435274.1:n.*1253-1439C>A
NM_139025.4:c.2283C>A , LRG_544t1:c.2283C>A	NP_620594.1:p.Gly761=
NM_139026.4:c.2190C>A	NP_620595.1:p.Gly730=
NM_139027.4:c.2283C>A	NP_620596.2:p.Gly761=
NR_024514.2:n.1256-1439C>A
XM_011518174.1:c.1893C>A	XP_011516476.1:p.Gly631=
XM_011518175.1:c.2283C>A	XP_011516477.1:p.Gly761=
XM_011518176.1:c.1299C>A	XP_011516478.1:p.Gly433=
XM_011518177.1:c.1293C>A	XP_011516479.1:p.Gly431=
XM_011518178.1:c.948C>A	XP_011516480.1:p.Gly316=
XM_011518179.1:c.948C>A	XP_011516481.1:p.Gly316=
XM_011518180.1:c.687-1439C>A	XP_011516482.1:n.687-1439C>A
XM_011518176.3:c.1299C>A	XP_011516478.1:p.Gly433=
XM_011518178.2:c.948C>A	XP_011516480.1:p.Gly316=
XM_017014232.1:c.2271C>A	XP_016869721.1:p.Gly757=
XM_017014233.1:c.1893C>A	XP_016869722.1:p.Gly631=
XM_017014234.2:c.1293C>A	XP_016869723.1:p.Gly431=
XM_017014235.1:c.2234+681C>A	XP_016869724.1:n.2234+681C>A
XR_001746171.1:n.3194-1439C>A
NM_139026.5:c.2190C>A	NP_620595.1:p.Gly730=
NM_139027.5:c.2283C>A	NP_620596.2:p.Gly761=
NM_139025.5:c.2283C>A	NP_620594.1:p.Gly761=
NM_139026.6:c.2190C>A	NP_620595.1:p.Gly730=
NM_139027.6:c.2283C>A MANE Select	NP_620596.2:p.Gly761=
NR_024514.3:n.1258-1439C>A