Canonical Allele Identifier: CA200932344

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133440367G>A , CM000671.2:g.133440367G>A	GRCh38
NC_000009.10:g.135295309G>A	NCBI36
NG_011934.2:g.31029G>A , LRG_544:g.31029G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1810G>A MANE Select	NP_620596.2:p.Val604Ile
ENST00000355699.7:c.1810G>A MANE Select	ENSP00000347927.2:p.Val604Ile
NM_139025.4:c.1810G>A , LRG_544t1:c.1810G>A	NP_620594.1:p.Val604Ile
NM_139025.5:c.1810G>A	NP_620594.1:p.Val604Ile
NM_139026.4:c.1717G>A	NP_620595.1:p.Val573Ile
NM_139026.5:c.1717G>A	NP_620595.1:p.Val573Ile
NM_139026.6:c.1717G>A	NP_620595.1:p.Val573Ile
NM_139027.4:c.1810G>A	NP_620596.2:p.Val604Ile
NM_139027.5:c.1810G>A	NP_620596.2:p.Val604Ile
NR_024514.2:n.1097G>A
NR_024514.3:n.1099G>A
ENST00000355699.6:c.1810G>A	ENSP00000347927.2:p.Val604Ile
ENST00000356589.6:c.1717G>A	ENSP00000348997.2:p.Val573Ile
ENST00000371916.5:c.1066G>A	ENSP00000360984.2:p.Val356Ile
ENST00000371929.7:c.1810G>A	ENSP00000360997.3:p.Val604Ile
ENST00000474918.1:c.*614G>A	ENSP00000435305.1:n.*614G>A
ENST00000485925.5:n.1078G>A
ENST00000495234.5:c.*1094G>A	ENSP00000435274.1:n.*1094G>A
XM_011518174.1:c.1420G>A	XP_011516476.1:p.Val474Ile
XM_011518175.1:c.1810G>A	XP_011516477.1:p.Val604Ile
XM_011518176.1:c.826G>A	XP_011516478.1:p.Val276Ile
XM_011518176.3:c.826G>A	XP_011516478.1:p.Val276Ile
XM_011518177.1:c.820G>A	XP_011516479.1:p.Val274Ile
XM_011518178.1:c.475G>A	XP_011516480.1:p.Val159Ile
XM_011518178.2:c.475G>A	XP_011516480.1:p.Val159Ile
XM_011518179.1:c.475G>A	XP_011516481.1:p.Val159Ile
XM_011518180.1:c.687-4496G>A	XP_011516482.1:n.687-4496G>A
XM_017014232.1:c.1798G>A	XP_016869721.1:p.Val600Ile
XM_017014233.1:c.1420G>A	XP_016869722.1:p.Val474Ile
XM_017014234.2:c.820G>A	XP_016869723.1:p.Val274Ile
XM_017014235.1:c.1810G>A	XP_016869724.1:p.Val604Ile
XR_001746171.1:n.3035G>A