Canonical Allele Identifier: CA200936784

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133445774G>A , CM000671.2:g.133445774G>A	GRCh38
NC_000009.10:g.135300716G>A	NCBI36
NG_011934.2:g.36436G>A , LRG_544:g.36436G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2686G>A MANE Select	NP_620596.2:p.Val896Met
ENST00000355699.7:c.2686G>A MANE Select	ENSP00000347927.2:p.Val896Met
NM_139025.4:c.2686G>A , LRG_544t1:c.2686G>A	NP_620594.1:p.Val896Met
NM_139025.5:c.2686G>A	NP_620594.1:p.Val896Met
NM_139026.4:c.2593G>A	NP_620595.1:p.Val865Met
NM_139026.5:c.2593G>A	NP_620595.1:p.Val865Met
NM_139026.6:c.2593G>A	NP_620595.1:p.Val865Met
NM_139027.4:c.2686G>A	NP_620596.2:p.Val896Met
NM_139027.5:c.2686G>A	NP_620596.2:p.Val896Met
NR_024514.2:n.1521G>A
NR_024514.3:n.1523G>A
ENST00000355699.6:c.2686G>A	ENSP00000347927.2:p.Val896Met
ENST00000356589.6:c.2593G>A	ENSP00000348997.2:p.Val865Met
ENST00000371916.5:c.*155G>A	ENSP00000360984.2:n.*155G>A
ENST00000371929.7:c.2686G>A	ENSP00000360997.3:p.Val896Met
ENST00000474918.1:c.*1224G>A	ENSP00000435305.1:n.*1224G>A
ENST00000485925.5:n.1502G>A
ENST00000495234.5:c.*1518G>A	ENSP00000435274.1:n.*1518G>A
XM_011518174.1:c.2296G>A	XP_011516476.1:p.Val766Met
XM_011518175.1:c.2686G>A	XP_011516477.1:p.Val896Met
XM_011518176.1:c.1702G>A	XP_011516478.1:p.Val568Met
XM_011518176.3:c.1702G>A	XP_011516478.1:p.Val568Met
XM_011518177.1:c.1696G>A	XP_011516479.1:p.Val566Met
XM_011518178.1:c.1351G>A	XP_011516480.1:p.Val451Met
XM_011518178.2:c.1351G>A	XP_011516480.1:p.Val451Met
XM_011518179.1:c.1351G>A	XP_011516481.1:p.Val451Met
XM_011518180.1:c.952G>A	XP_011516482.1:p.Val318Met
XM_017014232.1:c.2674G>A	XP_016869721.1:p.Val892Met
XM_017014233.1:c.2296G>A	XP_016869722.1:p.Val766Met
XM_017014234.2:c.1696G>A	XP_016869723.1:p.Val566Met
XR_001746171.1:n.3459G>A