Canonical Allele Identifier: CA1882681679

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454603T= , CM000671.2:g.133454603T=	GRCh38
NC_000009.10:g.135309546T=	NCBI36
NG_011934.2:g.45265T= , LRG_544:g.45265T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3233T= MANE Select	ENSP00000347927.2:p.Val1078=
ENST00000355699.6:c.3233T=	ENSP00000347927.2:p.Val1078=
ENST00000356589.6:c.3140T=	ENSP00000348997.2:p.Val1047=
ENST00000371916.5:c.*702T=	ENSP00000360984.2:n.*702T=
ENST00000371929.7:c.3233T=	ENSP00000360997.3:p.Val1078=
ENST00000485925.5:n.2049T=
NM_139025.4:c.3233T= , LRG_544t1:c.3233T=	NP_620594.1:p.Val1078=
NM_139026.4:c.3140T=	NP_620595.1:p.Val1047=
NM_139027.4:c.3233T=	NP_620596.2:p.Val1078=
NR_024514.2:n.2068T=
XM_011518174.1:c.2843T=	XP_011516476.1:p.Val948=
XM_011518175.1:c.3233T=	XP_011516477.1:p.Val1078=
XM_011518176.1:c.2249T=	XP_011516478.1:p.Val750=
XM_011518177.1:c.2243T=	XP_011516479.1:p.Val748=
XM_011518178.1:c.1898T=	XP_011516480.1:p.Val633=
XM_011518179.1:c.1898T=	XP_011516481.1:p.Val633=
XM_011518180.1:c.1499T=	XP_011516482.1:p.Val500=
XM_011518176.3:c.2249T=	XP_011516478.1:p.Val750=
XM_011518178.2:c.1898T=	XP_011516480.1:p.Val633=
XM_017014232.1:c.3221T=	XP_016869721.1:p.Val1074=
XM_017014233.1:c.2843T=	XP_016869722.1:p.Val948=
XM_017014234.2:c.2243T=	XP_016869723.1:p.Val748=
NM_139026.5:c.3140T=	NP_620595.1:p.Val1047=
NM_139027.5:c.3233T=	NP_620596.2:p.Val1078=
NM_139025.5:c.3233T=	NP_620594.1:p.Val1078=
NM_139026.6:c.3140T=	NP_620595.1:p.Val1047=
NM_139027.6:c.3233T= MANE Select	NP_620596.2:p.Val1078=
NR_024514.3:n.2070T=