Canonical Allele Identifier: CA375391567

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436868-T-A
• MyVariant Identifiers: chr9:g.133436868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436868T>A , CM000671.2:g.133436868T>A	GRCh38
NC_000009.10:g.135291809T>A	NCBI36
NG_011934.2:g.27530T>A , LRG_544:g.27530T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1348T>A MANE Select	ENSP00000347927.2:p.Cys450Ser
ENST00000355699.6:c.1348T>A	ENSP00000347927.2:p.Cys450Ser
ENST00000356589.6:c.1255T>A	ENSP00000348997.2:p.Cys419Ser
ENST00000371916.5:c.604T>A	ENSP00000360984.2:p.Cys202Ser
ENST00000371929.7:c.1348T>A	ENSP00000360997.3:p.Cys450Ser
ENST00000474918.1:c.*152T>A	ENSP00000435305.1:n.*152T>A
ENST00000485925.5:n.974-2498T>A
ENST00000495234.5:c.*632T>A	ENSP00000435274.1:n.*632T>A
NM_139025.4:c.1348T>A , LRG_544t1:c.1348T>A	NP_620594.1:p.Cys450Ser
NM_139026.4:c.1255T>A	NP_620595.1:p.Cys419Ser
NM_139027.4:c.1348T>A	NP_620596.2:p.Cys450Ser
NR_024514.2:n.993-2498T>A
XM_011518174.1:c.958T>A	XP_011516476.1:p.Cys320Ser
XM_011518175.1:c.1348T>A	XP_011516477.1:p.Cys450Ser
XM_011518176.1:c.364T>A	XP_011516478.1:p.Cys122Ser
XM_011518177.1:c.358T>A	XP_011516479.1:p.Cys120Ser
XM_011518178.1:c.13T>A	XP_011516480.1:p.Cys5Ser
XM_011518179.1:c.134T>A	XP_011516481.1:p.Val45Glu
XM_011518180.1:c.687-7995T>A	XP_011516482.1:n.687-7995T>A
XM_011518176.3:c.364T>A	XP_011516478.1:p.Cys122Ser
XM_011518178.2:c.13T>A	XP_011516480.1:p.Cys5Ser
XM_017014232.1:c.1336T>A	XP_016869721.1:p.Cys446Ser
XM_017014233.1:c.958T>A	XP_016869722.1:p.Cys320Ser
XM_017014234.2:c.358T>A	XP_016869723.1:p.Cys120Ser
XM_017014235.1:c.1348T>A	XP_016869724.1:p.Cys450Ser
XR_001746171.1:n.2573T>A
NM_139026.5:c.1255T>A	NP_620595.1:p.Cys419Ser
NM_139027.5:c.1348T>A	NP_620596.2:p.Cys450Ser
NM_139025.5:c.1348T>A	NP_620594.1:p.Cys450Ser
NM_139026.6:c.1255T>A	NP_620595.1:p.Cys419Ser
NM_139027.6:c.1348T>A MANE Select	NP_620596.2:p.Cys450Ser
NR_024514.3:n.995-2498T>A