Canonical Allele Identifier: CA200944824

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456156G>A , CM000671.2:g.133456156G>A	GRCh38
NC_000009.10:g.135311099G>A	NCBI36
NG_011934.2:g.46818G>A , LRG_544:g.46818G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3488G>A MANE Select	NP_620596.2:p.Arg1163Gln
ENST00000355699.7:c.3488G>A MANE Select	ENSP00000347927.2:p.Arg1163Gln
NM_139025.4:c.3656G>A , LRG_544t1:c.3656G>A	NP_620594.1:p.Arg1219Gln
NM_139025.5:c.3656G>A	NP_620594.1:p.Arg1219Gln
NM_139026.4:c.3395G>A	NP_620595.1:p.Arg1132Gln
NM_139026.5:c.3395G>A	NP_620595.1:p.Arg1132Gln
NM_139026.6:c.3395G>A	NP_620595.1:p.Arg1132Gln
NM_139027.4:c.3488G>A	NP_620596.2:p.Arg1163Gln
NM_139027.5:c.3488G>A	NP_620596.2:p.Arg1163Gln
NR_024514.2:n.2323G>A
NR_024514.3:n.2325G>A
ENST00000355699.6:c.3488G>A	ENSP00000347927.2:p.Arg1163Gln
ENST00000356589.6:c.3395G>A	ENSP00000348997.2:p.Arg1132Gln
ENST00000371910.1:c.44G>A	ENSP00000360978.1:p.Arg15Gln
ENST00000371916.5:c.*957G>A	ENSP00000360984.2:n.*957G>A
ENST00000371929.7:c.3656G>A	ENSP00000360997.3:p.Arg1219Gln
ENST00000485925.5:n.2304G>A
XM_011518174.1:c.3266G>A	XP_011516476.1:p.Arg1089Gln
XM_011518175.1:c.*63G>A	XP_011516477.1:n.*63G>A
XM_011518176.1:c.2672G>A	XP_011516478.1:p.Arg891Gln
XM_011518176.3:c.2672G>A	XP_011516478.1:p.Arg891Gln
XM_011518177.1:c.2666G>A	XP_011516479.1:p.Arg889Gln
XM_011518178.1:c.2321G>A	XP_011516480.1:p.Arg774Gln
XM_011518178.2:c.2321G>A	XP_011516480.1:p.Arg774Gln
XM_011518179.1:c.2321G>A	XP_011516481.1:p.Arg774Gln
XM_011518180.1:c.1922G>A	XP_011516482.1:p.Arg641Gln
XM_017014232.1:c.3644G>A	XP_016869721.1:p.Arg1215Gln
XM_017014233.1:c.3266G>A	XP_016869722.1:p.Arg1089Gln
XM_017014234.2:c.2666G>A	XP_016869723.1:p.Arg889Gln