Canonical Allele Identifier: CA200944174

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133455481G>A , CM000671.2:g.133455481G>A	GRCh38
NC_000009.10:g.135310424G>A	NCBI36
NG_011934.2:g.46143G>A , LRG_544:g.46143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3400+46G>A MANE Select	NP_620596.2:n.3400+46G>A
ENST00000355699.7:c.3400+46G>A MANE Select	ENSP00000347927.2:n.3400+46G>A
NM_139025.4:c.3446G>A , LRG_544t1:c.3446G>A	NP_620594.1:p.Arg1149Gln
NM_139025.5:c.3446G>A	NP_620594.1:p.Arg1149Gln
NM_139026.4:c.3307+46G>A	NP_620595.1:n.3307+46G>A
NM_139026.5:c.3307+46G>A	NP_620595.1:n.3307+46G>A
NM_139026.6:c.3307+46G>A	NP_620595.1:n.3307+46G>A
NM_139027.4:c.3400+46G>A	NP_620596.2:n.3400+46G>A
NM_139027.5:c.3400+46G>A	NP_620596.2:n.3400+46G>A
NR_024514.2:n.2235+46G>A
NR_024514.3:n.2237+46G>A
ENST00000355699.6:c.3400+46G>A	ENSP00000347927.2:n.3400+46G>A
ENST00000356589.6:c.3307+46G>A	ENSP00000348997.2:n.3307+46G>A
ENST00000371916.5:c.*869+46G>A	ENSP00000360984.2:n.*869+46G>A
ENST00000371929.7:c.3446G>A	ENSP00000360997.3:p.Arg1149Gln
ENST00000485925.5:n.2216+46G>A
XM_011518174.1:c.3056G>A	XP_011516476.1:p.Arg1019Gln
XM_011518175.1:c.3446G>A	XP_011516477.1:p.Arg1149Gln
XM_011518176.1:c.2462G>A	XP_011516478.1:p.Arg821Gln
XM_011518176.3:c.2462G>A	XP_011516478.1:p.Arg821Gln
XM_011518177.1:c.2456G>A	XP_011516479.1:p.Arg819Gln
XM_011518178.1:c.2111G>A	XP_011516480.1:p.Arg704Gln
XM_011518178.2:c.2111G>A	XP_011516480.1:p.Arg704Gln
XM_011518179.1:c.2111G>A	XP_011516481.1:p.Arg704Gln
XM_011518180.1:c.1712G>A	XP_011516482.1:p.Arg571Gln
XM_017014232.1:c.3434G>A	XP_016869721.1:p.Arg1145Gln
XM_017014233.1:c.3056G>A	XP_016869722.1:p.Arg1019Gln
XM_017014234.2:c.2456G>A	XP_016869723.1:p.Arg819Gln