Canonical Allele Identifier: CA375391596

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1554789174
• gnomAD v4: 9-133436874-A-G
• MyVariant Identifiers: chr9:g.133436874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436874A>G , CM000671.2:g.133436874A>G	GRCh38
NC_000009.10:g.135291815A>G	NCBI36
NG_011934.2:g.27536A>G , LRG_544:g.27536A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1354A>G MANE Select	ENSP00000347927.2:p.Arg452Gly
ENST00000355699.6:c.1354A>G	ENSP00000347927.2:p.Arg452Gly
ENST00000356589.6:c.1261A>G	ENSP00000348997.2:p.Arg421Gly
ENST00000371916.5:c.610A>G	ENSP00000360984.2:p.Arg204Gly
ENST00000371929.7:c.1354A>G	ENSP00000360997.3:p.Arg452Gly
ENST00000474918.1:c.*158A>G	ENSP00000435305.1:n.*158A>G
ENST00000485925.5:n.974-2492A>G
ENST00000495234.5:c.*638A>G	ENSP00000435274.1:n.*638A>G
NM_139025.4:c.1354A>G , LRG_544t1:c.1354A>G	NP_620594.1:p.Arg452Gly
NM_139026.4:c.1261A>G	NP_620595.1:p.Arg421Gly
NM_139027.4:c.1354A>G	NP_620596.2:p.Arg452Gly
NR_024514.2:n.993-2492A>G
XM_011518174.1:c.964A>G	XP_011516476.1:p.Arg322Gly
XM_011518175.1:c.1354A>G	XP_011516477.1:p.Arg452Gly
XM_011518176.1:c.370A>G	XP_011516478.1:p.Arg124Gly
XM_011518177.1:c.364A>G	XP_011516479.1:p.Arg122Gly
XM_011518178.1:c.19A>G	XP_011516480.1:p.Arg7Gly
XM_011518179.1:c.140A>G	XP_011516481.1:p.Gln47Arg
XM_011518180.1:c.687-7989A>G	XP_011516482.1:n.687-7989A>G
XM_011518176.3:c.370A>G	XP_011516478.1:p.Arg124Gly
XM_011518178.2:c.19A>G	XP_011516480.1:p.Arg7Gly
XM_017014232.1:c.1342A>G	XP_016869721.1:p.Arg448Gly
XM_017014233.1:c.964A>G	XP_016869722.1:p.Arg322Gly
XM_017014234.2:c.364A>G	XP_016869723.1:p.Arg122Gly
XM_017014235.1:c.1354A>G	XP_016869724.1:p.Arg452Gly
XR_001746171.1:n.2579A>G
NM_139026.5:c.1261A>G	NP_620595.1:p.Arg421Gly
NM_139027.5:c.1354A>G	NP_620596.2:p.Arg452Gly
NM_139025.5:c.1354A>G	NP_620594.1:p.Arg452Gly
NM_139026.6:c.1261A>G	NP_620595.1:p.Arg421Gly
NM_139027.6:c.1354A>G MANE Select	NP_620596.2:p.Arg452Gly
NR_024514.3:n.995-2492A>G