Canonical Allele Identifier: CA375391546

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436863-A-G
• MyVariant Identifiers: chr9:g.133436863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436863A>G , CM000671.2:g.133436863A>G	GRCh38
NC_000009.10:g.135291804A>G	NCBI36
NG_011934.2:g.27525A>G , LRG_544:g.27525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1343A>G MANE Select	ENSP00000347927.2:p.Gln448Arg
ENST00000355699.6:c.1343A>G	ENSP00000347927.2:p.Gln448Arg
ENST00000356589.6:c.1250A>G	ENSP00000348997.2:p.Gln417Arg
ENST00000371916.5:c.599A>G	ENSP00000360984.2:p.Gln200Arg
ENST00000371929.7:c.1343A>G	ENSP00000360997.3:p.Gln448Arg
ENST00000474918.1:c.*147A>G	ENSP00000435305.1:n.*147A>G
ENST00000485925.5:n.974-2503A>G
ENST00000495234.5:c.*627A>G	ENSP00000435274.1:n.*627A>G
NM_139025.4:c.1343A>G , LRG_544t1:c.1343A>G	NP_620594.1:p.Gln448Arg
NM_139026.4:c.1250A>G	NP_620595.1:p.Gln417Arg
NM_139027.4:c.1343A>G	NP_620596.2:p.Gln448Arg
NR_024514.2:n.993-2503A>G
XM_011518174.1:c.953A>G	XP_011516476.1:p.Gln318Arg
XM_011518175.1:c.1343A>G	XP_011516477.1:p.Gln448Arg
XM_011518176.1:c.359A>G	XP_011516478.1:p.Gln120Arg
XM_011518177.1:c.353A>G	XP_011516479.1:p.Gln118Arg
XM_011518178.1:c.8A>G	XP_011516480.1:p.Gln3Arg
XM_011518179.1:c.129A>G	XP_011516481.1:p.Ala43=
XM_011518180.1:c.687-8000A>G	XP_011516482.1:n.687-8000A>G
XM_011518176.3:c.359A>G	XP_011516478.1:p.Gln120Arg
XM_011518178.2:c.8A>G	XP_011516480.1:p.Gln3Arg
XM_017014232.1:c.1331A>G	XP_016869721.1:p.Gln444Arg
XM_017014233.1:c.953A>G	XP_016869722.1:p.Gln318Arg
XM_017014234.2:c.353A>G	XP_016869723.1:p.Gln118Arg
XM_017014235.1:c.1343A>G	XP_016869724.1:p.Gln448Arg
XR_001746171.1:n.2568A>G
NM_139026.5:c.1250A>G	NP_620595.1:p.Gln417Arg
NM_139027.5:c.1343A>G	NP_620596.2:p.Gln448Arg
NM_139025.5:c.1343A>G	NP_620594.1:p.Gln448Arg
NM_139026.6:c.1250A>G	NP_620595.1:p.Gln417Arg
NM_139027.6:c.1343A>G MANE Select	NP_620596.2:p.Gln448Arg
NR_024514.3:n.995-2503A>G