Canonical Allele Identifier: CA1882673173

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436937G= , CM000671.2:g.133436937G=	GRCh38
NC_000009.10:g.135291878G=	NCBI36
NG_011934.2:g.27599G= , LRG_544:g.27599G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1417G= MANE Select	ENSP00000347927.2:p.Ala473=
ENST00000355699.6:c.1417G=	ENSP00000347927.2:p.Ala473=
ENST00000356589.6:c.1324G=	ENSP00000348997.2:p.Ala442=
ENST00000371916.5:c.673G=	ENSP00000360984.2:p.Ala225=
ENST00000371929.7:c.1417G=	ENSP00000360997.3:p.Ala473=
ENST00000474918.1:c.*221G=	ENSP00000435305.1:n.*221G=
ENST00000485925.5:n.974-2429G=
ENST00000495234.5:c.*701G=	ENSP00000435274.1:n.*701G=
NM_139025.4:c.1417G= , LRG_544t1:c.1417G=	NP_620594.1:p.Ala473=
NM_139026.4:c.1324G=	NP_620595.1:p.Ala442=
NM_139027.4:c.1417G=	NP_620596.2:p.Ala473=
NR_024514.2:n.993-2429G=
XM_011518174.1:c.1027G=	XP_011516476.1:p.Ala343=
XM_011518175.1:c.1417G=	XP_011516477.1:p.Ala473=
XM_011518176.1:c.433G=	XP_011516478.1:p.Ala145=
XM_011518177.1:c.427G=	XP_011516479.1:p.Ala143=
XM_011518178.1:c.82G=	XP_011516480.1:p.Ala28=
XM_011518179.1:c.203G=	XP_011516481.1:p.Cys68=
XM_011518180.1:c.687-7926G=	XP_011516482.1:n.687-7926G=
XM_011518176.3:c.433G=	XP_011516478.1:p.Ala145=
XM_011518178.2:c.82G=	XP_011516480.1:p.Ala28=
XM_017014232.1:c.1405G=	XP_016869721.1:p.Ala469=
XM_017014233.1:c.1027G=	XP_016869722.1:p.Ala343=
XM_017014234.2:c.427G=	XP_016869723.1:p.Ala143=
XM_017014235.1:c.1417G=	XP_016869724.1:p.Ala473=
XR_001746171.1:n.2642G=
NM_139026.5:c.1324G=	NP_620595.1:p.Ala442=
NM_139027.5:c.1417G=	NP_620596.2:p.Ala473=
NM_139025.5:c.1417G=	NP_620594.1:p.Ala473=
NM_139026.6:c.1324G=	NP_620595.1:p.Ala442=
NM_139027.6:c.1417G= MANE Select	NP_620596.2:p.Ala473=
NR_024514.3:n.995-2429G=