Canonical Allele Identifier: CA200947645

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133459070G>A , CM000671.2:g.133459070G>A	GRCh38
NC_000009.10:g.135314013G>A	NCBI36
NG_011934.2:g.49732G>A , LRG_544:g.49732G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.4006G>A MANE Select	NP_620596.2:p.Glu1336Lys
ENST00000355699.7:c.4006G>A MANE Select	ENSP00000347927.2:p.Glu1336Lys
NM_139025.4:c.4174G>A , LRG_544t1:c.4174G>A	NP_620594.1:p.Glu1392Lys
NM_139025.5:c.4174G>A	NP_620594.1:p.Glu1392Lys
NM_139026.4:c.3913G>A	NP_620595.1:p.Glu1305Lys
NM_139026.5:c.3913G>A	NP_620595.1:p.Glu1305Lys
NM_139026.6:c.3913G>A	NP_620595.1:p.Glu1305Lys
NM_139027.4:c.4006G>A	NP_620596.2:p.Glu1336Lys
NM_139027.5:c.4006G>A	NP_620596.2:p.Glu1336Lys
NR_024514.2:n.2656G>A
NR_024514.3:n.2658G>A
ENST00000355699.6:c.4006G>A	ENSP00000347927.2:p.Glu1336Lys
ENST00000356589.6:c.3913G>A	ENSP00000348997.2:p.Glu1305Lys
ENST00000371910.1:c.562G>A	ENSP00000360978.1:p.Glu188Lys
ENST00000371916.5:c.*1475G>A	ENSP00000360984.2:n.*1475G>A
ENST00000371929.7:c.4174G>A	ENSP00000360997.3:p.Glu1392Lys
ENST00000485925.5:n.2637G>A
XM_011518174.1:c.3784G>A	XP_011516476.1:p.Glu1262Lys
XM_011518176.1:c.3190G>A	XP_011516478.1:p.Glu1064Lys
XM_011518176.3:c.3190G>A	XP_011516478.1:p.Glu1064Lys
XM_011518177.1:c.3184G>A	XP_011516479.1:p.Glu1062Lys
XM_011518178.1:c.2839G>A	XP_011516480.1:p.Glu947Lys
XM_011518178.2:c.2839G>A	XP_011516480.1:p.Glu947Lys
XM_011518179.1:c.2839G>A	XP_011516481.1:p.Glu947Lys
XM_011518180.1:c.2440G>A	XP_011516482.1:p.Glu814Lys
XM_017014232.1:c.4162G>A	XP_016869721.1:p.Glu1388Lys
XM_017014233.1:c.3784G>A	XP_016869722.1:p.Glu1262Lys
XM_017014234.2:c.3184G>A	XP_016869723.1:p.Glu1062Lys