Canonical Allele Identifier: CA200936055

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133444987G>A , CM000671.2:g.133444987G>A	GRCh38
NC_000009.10:g.135299929G>A	NCBI36
NG_011934.2:g.35649G>A , LRG_544:g.35649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2545G>A MANE Select	NP_620596.2:p.Val849Ile
ENST00000355699.7:c.2545G>A MANE Select	ENSP00000347927.2:p.Val849Ile
NM_139025.4:c.2545G>A , LRG_544t1:c.2545G>A	NP_620594.1:p.Val849Ile
NM_139025.5:c.2545G>A	NP_620594.1:p.Val849Ile
NM_139026.4:c.2452G>A	NP_620595.1:p.Val818Ile
NM_139026.5:c.2452G>A	NP_620595.1:p.Val818Ile
NM_139026.6:c.2452G>A	NP_620595.1:p.Val818Ile
NM_139027.4:c.2545G>A	NP_620596.2:p.Val849Ile
NM_139027.5:c.2545G>A	NP_620596.2:p.Val849Ile
NR_024514.2:n.1380G>A
NR_024514.3:n.1382G>A
ENST00000355699.6:c.2545G>A	ENSP00000347927.2:p.Val849Ile
ENST00000356589.6:c.2452G>A	ENSP00000348997.2:p.Val818Ile
ENST00000371916.5:c.*14G>A	ENSP00000360984.2:n.*14G>A
ENST00000371929.7:c.2545G>A	ENSP00000360997.3:p.Val849Ile
ENST00000474918.1:c.*1083G>A	ENSP00000435305.1:n.*1083G>A
ENST00000485925.5:n.1361G>A
ENST00000495234.5:c.*1377G>A	ENSP00000435274.1:n.*1377G>A
XM_011518174.1:c.2155G>A	XP_011516476.1:p.Val719Ile
XM_011518175.1:c.2545G>A	XP_011516477.1:p.Val849Ile
XM_011518176.1:c.1561G>A	XP_011516478.1:p.Val521Ile
XM_011518176.3:c.1561G>A	XP_011516478.1:p.Val521Ile
XM_011518177.1:c.1555G>A	XP_011516479.1:p.Val519Ile
XM_011518178.1:c.1210G>A	XP_011516480.1:p.Val404Ile
XM_011518178.2:c.1210G>A	XP_011516480.1:p.Val404Ile
XM_011518179.1:c.1210G>A	XP_011516481.1:p.Val404Ile
XM_011518180.1:c.811G>A	XP_011516482.1:p.Val271Ile
XM_017014232.1:c.2533G>A	XP_016869721.1:p.Val845Ile
XM_017014233.1:c.2155G>A	XP_016869722.1:p.Val719Ile
XM_017014234.2:c.1555G>A	XP_016869723.1:p.Val519Ile
XR_001746171.1:n.3318G>A