Canonical Allele Identifier: CA375410301

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454492-A-G
• MyVariant Identifiers: chr9:g.133454492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454492A>G , CM000671.2:g.133454492A>G	GRCh38
NC_000009.10:g.135309435A>G	NCBI36
NG_011934.2:g.45154A>G , LRG_544:g.45154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3122A>G MANE Select	ENSP00000347927.2:p.Gln1041Arg
ENST00000355699.6:c.3122A>G	ENSP00000347927.2:p.Gln1041Arg
ENST00000356589.6:c.3029A>G	ENSP00000348997.2:p.Gln1010Arg
ENST00000371916.5:c.*591A>G	ENSP00000360984.2:n.*591A>G
ENST00000371929.7:c.3122A>G	ENSP00000360997.3:p.Gln1041Arg
ENST00000485925.5:n.1938A>G
NM_139025.4:c.3122A>G , LRG_544t1:c.3122A>G	NP_620594.1:p.Gln1041Arg
NM_139026.4:c.3029A>G	NP_620595.1:p.Gln1010Arg
NM_139027.4:c.3122A>G	NP_620596.2:p.Gln1041Arg
NR_024514.2:n.1957A>G
XM_011518174.1:c.2732A>G	XP_011516476.1:p.Gln911Arg
XM_011518175.1:c.3122A>G	XP_011516477.1:p.Gln1041Arg
XM_011518176.1:c.2138A>G	XP_011516478.1:p.Gln713Arg
XM_011518177.1:c.2132A>G	XP_011516479.1:p.Gln711Arg
XM_011518178.1:c.1787A>G	XP_011516480.1:p.Gln596Arg
XM_011518179.1:c.1787A>G	XP_011516481.1:p.Gln596Arg
XM_011518180.1:c.1388A>G	XP_011516482.1:p.Gln463Arg
XM_011518176.3:c.2138A>G	XP_011516478.1:p.Gln713Arg
XM_011518178.2:c.1787A>G	XP_011516480.1:p.Gln596Arg
XM_017014232.1:c.3110A>G	XP_016869721.1:p.Gln1037Arg
XM_017014233.1:c.2732A>G	XP_016869722.1:p.Gln911Arg
XM_017014234.2:c.2132A>G	XP_016869723.1:p.Gln711Arg
NM_139026.5:c.3029A>G	NP_620595.1:p.Gln1010Arg
NM_139027.5:c.3122A>G	NP_620596.2:p.Gln1041Arg
NM_139025.5:c.3122A>G	NP_620594.1:p.Gln1041Arg
NM_139026.6:c.3029A>G	NP_620595.1:p.Gln1010Arg
NM_139027.6:c.3122A>G MANE Select	NP_620596.2:p.Gln1041Arg
NR_024514.3:n.1959A>G