Canonical Allele Identifier: CA200929645

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 1903768
• ClinVar RCV Id: RCV002586607
• dbSNP Id: rs587613923
• gnomAD v3: 9-133436883-G-A
• gnomAD v4: 9-133436883-G-A
• MyVariant Identifiers: chr9:g.133436883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436883G>A , CM000671.2:g.133436883G>A	GRCh38
NC_000009.10:g.135291824G>A	NCBI36
NG_011934.2:g.27545G>A , LRG_544:g.27545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1363G>A MANE Select	ENSP00000347927.2:p.Gly455Ser
ENST00000355699.6:c.1363G>A	ENSP00000347927.2:p.Gly455Ser
ENST00000356589.6:c.1270G>A	ENSP00000348997.2:p.Gly424Ser
ENST00000371916.5:c.619G>A	ENSP00000360984.2:p.Gly207Ser
ENST00000371929.7:c.1363G>A	ENSP00000360997.3:p.Gly455Ser
ENST00000474918.1:c.*167G>A	ENSP00000435305.1:n.*167G>A
ENST00000485925.5:n.974-2483G>A
ENST00000495234.5:c.*647G>A	ENSP00000435274.1:n.*647G>A
NM_139025.4:c.1363G>A , LRG_544t1:c.1363G>A	NP_620594.1:p.Gly455Ser
NM_139026.4:c.1270G>A	NP_620595.1:p.Gly424Ser
NM_139027.4:c.1363G>A	NP_620596.2:p.Gly455Ser
NR_024514.2:n.993-2483G>A
XM_011518174.1:c.973G>A	XP_011516476.1:p.Gly325Ser
XM_011518175.1:c.1363G>A	XP_011516477.1:p.Gly455Ser
XM_011518176.1:c.379G>A	XP_011516478.1:p.Gly127Ser
XM_011518177.1:c.373G>A	XP_011516479.1:p.Gly125Ser
XM_011518178.1:c.28G>A	XP_011516480.1:p.Gly10Ser
XM_011518179.1:c.149G>A	XP_011516481.1:p.Arg50Gln
XM_011518180.1:c.687-7980G>A	XP_011516482.1:n.687-7980G>A
XM_011518176.3:c.379G>A	XP_011516478.1:p.Gly127Ser
XM_011518178.2:c.28G>A	XP_011516480.1:p.Gly10Ser
XM_017014232.1:c.1351G>A	XP_016869721.1:p.Gly451Ser
XM_017014233.1:c.973G>A	XP_016869722.1:p.Gly325Ser
XM_017014234.2:c.373G>A	XP_016869723.1:p.Gly125Ser
XM_017014235.1:c.1363G>A	XP_016869724.1:p.Gly455Ser
XR_001746171.1:n.2588G>A
NM_139026.5:c.1270G>A	NP_620595.1:p.Gly424Ser
NM_139027.5:c.1363G>A	NP_620596.2:p.Gly455Ser
NM_139025.5:c.1363G>A	NP_620594.1:p.Gly455Ser
NM_139026.6:c.1270G>A	NP_620595.1:p.Gly424Ser
NM_139027.6:c.1363G>A MANE Select	NP_620596.2:p.Gly455Ser
NR_024514.3:n.995-2483G>A