Canonical Allele Identifier: CA375410216

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454473-C-A
• MyVariant Identifiers: chr9:g.133454473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454473C>A , CM000671.2:g.133454473C>A	GRCh38
NC_000009.10:g.135309416C>A	NCBI36
NG_011934.2:g.45135C>A , LRG_544:g.45135C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3103C>A MANE Select	ENSP00000347927.2:p.Arg1035Ser
ENST00000355699.6:c.3103C>A	ENSP00000347927.2:p.Arg1035Ser
ENST00000356589.6:c.3010C>A	ENSP00000348997.2:p.Arg1004Ser
ENST00000371916.5:c.*572C>A	ENSP00000360984.2:n.*572C>A
ENST00000371929.7:c.3103C>A	ENSP00000360997.3:p.Arg1035Ser
ENST00000485925.5:n.1919C>A
NM_139025.4:c.3103C>A , LRG_544t1:c.3103C>A	NP_620594.1:p.Arg1035Ser
NM_139026.4:c.3010C>A	NP_620595.1:p.Arg1004Ser
NM_139027.4:c.3103C>A	NP_620596.2:p.Arg1035Ser
NR_024514.2:n.1938C>A
XM_011518174.1:c.2713C>A	XP_011516476.1:p.Arg905Ser
XM_011518175.1:c.3103C>A	XP_011516477.1:p.Arg1035Ser
XM_011518176.1:c.2119C>A	XP_011516478.1:p.Arg707Ser
XM_011518177.1:c.2113C>A	XP_011516479.1:p.Arg705Ser
XM_011518178.1:c.1768C>A	XP_011516480.1:p.Arg590Ser
XM_011518179.1:c.1768C>A	XP_011516481.1:p.Arg590Ser
XM_011518180.1:c.1369C>A	XP_011516482.1:p.Arg457Ser
XM_011518176.3:c.2119C>A	XP_011516478.1:p.Arg707Ser
XM_011518178.2:c.1768C>A	XP_011516480.1:p.Arg590Ser
XM_017014232.1:c.3091C>A	XP_016869721.1:p.Arg1031Ser
XM_017014233.1:c.2713C>A	XP_016869722.1:p.Arg905Ser
XM_017014234.2:c.2113C>A	XP_016869723.1:p.Arg705Ser
NM_139026.5:c.3010C>A	NP_620595.1:p.Arg1004Ser
NM_139027.5:c.3103C>A	NP_620596.2:p.Arg1035Ser
NM_139025.5:c.3103C>A	NP_620594.1:p.Arg1035Ser
NM_139026.6:c.3010C>A	NP_620595.1:p.Arg1004Ser
NM_139027.6:c.3103C>A MANE Select	NP_620596.2:p.Arg1035Ser
NR_024514.3:n.1940C>A