Canonical Allele Identifier: CA200926915

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133433442G>A , CM000671.2:g.133433442G>A	GRCh38
NC_000009.10:g.135288383G>A	NCBI36
NG_011934.2:g.24104G>A , LRG_544:g.24104G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1157G>A MANE Select	NP_620596.2:p.Arg386His
ENST00000355699.7:c.1157G>A MANE Select	ENSP00000347927.2:p.Arg386His
NM_139025.4:c.1157G>A , LRG_544t1:c.1157G>A	NP_620594.1:p.Arg386His
NM_139025.5:c.1157G>A	NP_620594.1:p.Arg386His
NM_139026.4:c.1064G>A	NP_620595.1:p.Arg355His
NM_139026.5:c.1064G>A	NP_620595.1:p.Arg355His
NM_139026.6:c.1064G>A	NP_620595.1:p.Arg355His
NM_139027.4:c.1157G>A	NP_620596.2:p.Arg386His
NM_139027.5:c.1157G>A	NP_620596.2:p.Arg386His
NR_024514.2:n.992+750G>A
NR_024514.3:n.994+750G>A
ENST00000355699.6:c.1157G>A	ENSP00000347927.2:p.Arg386His
ENST00000356589.6:c.1064G>A	ENSP00000348997.2:p.Arg355His
ENST00000371916.5:c.413G>A	ENSP00000360984.2:p.Arg138His
ENST00000371929.7:c.1157G>A	ENSP00000360997.3:p.Arg386His
ENST00000474918.1:c.*25G>A	ENSP00000435305.1:n.*25G>A
ENST00000485925.5:n.973+750G>A
ENST00000495234.5:c.*441G>A	ENSP00000435274.1:n.*441G>A
XM_011518174.1:c.767G>A	XP_011516476.1:p.Arg256His
XM_011518175.1:c.1157G>A	XP_011516477.1:p.Arg386His
XM_011518176.1:c.173G>A	XP_011516478.1:p.Arg58His
XM_011518176.3:c.173G>A	XP_011516478.1:p.Arg58His
XM_011518177.1:c.167G>A	XP_011516479.1:p.Arg56His
XM_011518179.1:c.7G>A	XP_011516481.1:p.Ala3Thr
XM_011518180.1:c.686+7097G>A	XP_011516482.1:n.686+7097G>A
XM_017014232.1:c.1145G>A	XP_016869721.1:p.Arg382His
XM_017014233.1:c.767G>A	XP_016869722.1:p.Arg256His
XM_017014234.2:c.167G>A	XP_016869723.1:p.Arg56His
XM_017014235.1:c.1157G>A	XP_016869724.1:p.Arg386His
XR_001746171.1:n.2382G>A