Canonical Allele Identifier: CA200929655

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 1987415
• ClinVar RCV Id: RCV002775967
• dbSNP Id: rs781802178
• gnomAD v3: 9-133436891-G-A
• gnomAD v4: 9-133436891-G-A
• MyVariant Identifiers: chr9:g.133436891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436891G>A , CM000671.2:g.133436891G>A	GRCh38
NC_000009.10:g.135291832G>A	NCBI36
NG_011934.2:g.27553G>A , LRG_544:g.27553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1371G>A MANE Select	ENSP00000347927.2:p.Pro457=
ENST00000355699.6:c.1371G>A	ENSP00000347927.2:p.Pro457=
ENST00000356589.6:c.1278G>A	ENSP00000348997.2:p.Pro426=
ENST00000371916.5:c.627G>A	ENSP00000360984.2:p.Pro209=
ENST00000371929.7:c.1371G>A	ENSP00000360997.3:p.Pro457=
ENST00000474918.1:c.*175G>A	ENSP00000435305.1:n.*175G>A
ENST00000485925.5:n.974-2475G>A
ENST00000495234.5:c.*655G>A	ENSP00000435274.1:n.*655G>A
NM_139025.4:c.1371G>A , LRG_544t1:c.1371G>A	NP_620594.1:p.Pro457=
NM_139026.4:c.1278G>A	NP_620595.1:p.Pro426=
NM_139027.4:c.1371G>A	NP_620596.2:p.Pro457=
NR_024514.2:n.993-2475G>A
XM_011518174.1:c.981G>A	XP_011516476.1:p.Pro327=
XM_011518175.1:c.1371G>A	XP_011516477.1:p.Pro457=
XM_011518176.1:c.387G>A	XP_011516478.1:p.Pro129=
XM_011518177.1:c.381G>A	XP_011516479.1:p.Pro127=
XM_011518178.1:c.36G>A	XP_011516480.1:p.Pro12=
XM_011518179.1:c.157G>A	XP_011516481.1:p.Ala53Thr
XM_011518180.1:c.687-7972G>A	XP_011516482.1:n.687-7972G>A
XM_011518176.3:c.387G>A	XP_011516478.1:p.Pro129=
XM_011518178.2:c.36G>A	XP_011516480.1:p.Pro12=
XM_017014232.1:c.1359G>A	XP_016869721.1:p.Pro453=
XM_017014233.1:c.981G>A	XP_016869722.1:p.Pro327=
XM_017014234.2:c.381G>A	XP_016869723.1:p.Pro127=
XM_017014235.1:c.1371G>A	XP_016869724.1:p.Pro457=
XR_001746171.1:n.2596G>A
NM_139026.5:c.1278G>A	NP_620595.1:p.Pro426=
NM_139027.5:c.1371G>A	NP_620596.2:p.Pro457=
NM_139025.5:c.1371G>A	NP_620594.1:p.Pro457=
NM_139026.6:c.1278G>A	NP_620595.1:p.Pro426=
NM_139027.6:c.1371G>A MANE Select	NP_620596.2:p.Pro457=
NR_024514.3:n.995-2475G>A