Canonical Allele Identifier: CA200929626

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 988137
• ClinVar RCV Id: RCV001328113
• dbSNP Id: rs375508823
• gnomAD v3: 9-133436871-G-A
• gnomAD v4: 9-133436871-G-A
• MyVariant Identifiers: chr9:g.133436871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436871G>A , CM000671.2:g.133436871G>A	GRCh38
NC_000009.10:g.135291812G>A	NCBI36
NG_011934.2:g.27533G>A , LRG_544:g.27533G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1351G>A MANE Select	ENSP00000347927.2:p.Ala451Thr
ENST00000355699.6:c.1351G>A	ENSP00000347927.2:p.Ala451Thr
ENST00000356589.6:c.1258G>A	ENSP00000348997.2:p.Ala420Thr
ENST00000371916.5:c.607G>A	ENSP00000360984.2:p.Ala203Thr
ENST00000371929.7:c.1351G>A	ENSP00000360997.3:p.Ala451Thr
ENST00000474918.1:c.*155G>A	ENSP00000435305.1:n.*155G>A
ENST00000485925.5:n.974-2495G>A
ENST00000495234.5:c.*635G>A	ENSP00000435274.1:n.*635G>A
NM_139025.4:c.1351G>A , LRG_544t1:c.1351G>A	NP_620594.1:p.Ala451Thr
NM_139026.4:c.1258G>A	NP_620595.1:p.Ala420Thr
NM_139027.4:c.1351G>A	NP_620596.2:p.Ala451Thr
NR_024514.2:n.993-2495G>A
XM_011518174.1:c.961G>A	XP_011516476.1:p.Ala321Thr
XM_011518175.1:c.1351G>A	XP_011516477.1:p.Ala451Thr
XM_011518176.1:c.367G>A	XP_011516478.1:p.Ala123Thr
XM_011518177.1:c.361G>A	XP_011516479.1:p.Ala121Thr
XM_011518178.1:c.16G>A	XP_011516480.1:p.Ala6Thr
XM_011518179.1:c.137G>A	XP_011516481.1:p.Arg46His
XM_011518180.1:c.687-7992G>A	XP_011516482.1:n.687-7992G>A
XM_011518176.3:c.367G>A	XP_011516478.1:p.Ala123Thr
XM_011518178.2:c.16G>A	XP_011516480.1:p.Ala6Thr
XM_017014232.1:c.1339G>A	XP_016869721.1:p.Ala447Thr
XM_017014233.1:c.961G>A	XP_016869722.1:p.Ala321Thr
XM_017014234.2:c.361G>A	XP_016869723.1:p.Ala121Thr
XM_017014235.1:c.1351G>A	XP_016869724.1:p.Ala451Thr
XR_001746171.1:n.2576G>A
NM_139026.5:c.1258G>A	NP_620595.1:p.Ala420Thr
NM_139027.5:c.1351G>A	NP_620596.2:p.Ala451Thr
NM_139025.5:c.1351G>A	NP_620594.1:p.Ala451Thr
NM_139026.6:c.1258G>A	NP_620595.1:p.Ala420Thr
NM_139027.6:c.1351G>A MANE Select	NP_620596.2:p.Ala451Thr
NR_024514.3:n.995-2495G>A