Canonical Allele Identifier: CA200934693

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443395G>A , CM000671.2:g.133443395G>A	GRCh38
NC_000009.10:g.135298337G>A	NCBI36
NG_011934.2:g.34057G>A , LRG_544:g.34057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2254G>A MANE Select	NP_620596.2:p.Gly752Ser
ENST00000355699.7:c.2254G>A MANE Select	ENSP00000347927.2:p.Gly752Ser
NM_139025.4:c.2254G>A , LRG_544t1:c.2254G>A	NP_620594.1:p.Gly752Ser
NM_139025.5:c.2254G>A	NP_620594.1:p.Gly752Ser
NM_139026.4:c.2161G>A	NP_620595.1:p.Gly721Ser
NM_139026.5:c.2161G>A	NP_620595.1:p.Gly721Ser
NM_139026.6:c.2161G>A	NP_620595.1:p.Gly721Ser
NM_139027.4:c.2254G>A	NP_620596.2:p.Gly752Ser
NM_139027.5:c.2254G>A	NP_620596.2:p.Gly752Ser
NR_024514.2:n.1256-1468G>A
NR_024514.3:n.1258-1468G>A
ENST00000355699.6:c.2254G>A	ENSP00000347927.2:p.Gly752Ser
ENST00000356589.6:c.2161G>A	ENSP00000348997.2:p.Gly721Ser
ENST00000371916.5:c.1225-1468G>A	ENSP00000360984.2:n.1225-1468G>A
ENST00000371929.7:c.2254G>A	ENSP00000360997.3:p.Gly752Ser
ENST00000474918.1:c.*792G>A	ENSP00000435305.1:n.*792G>A
ENST00000485925.5:n.1237-1468G>A
ENST00000495234.5:c.*1253-1468G>A	ENSP00000435274.1:n.*1253-1468G>A
XM_011518174.1:c.1864G>A	XP_011516476.1:p.Gly622Ser
XM_011518175.1:c.2254G>A	XP_011516477.1:p.Gly752Ser
XM_011518176.1:c.1270G>A	XP_011516478.1:p.Gly424Ser
XM_011518176.3:c.1270G>A	XP_011516478.1:p.Gly424Ser
XM_011518177.1:c.1264G>A	XP_011516479.1:p.Gly422Ser
XM_011518178.1:c.919G>A	XP_011516480.1:p.Gly307Ser
XM_011518178.2:c.919G>A	XP_011516480.1:p.Gly307Ser
XM_011518179.1:c.919G>A	XP_011516481.1:p.Gly307Ser
XM_011518180.1:c.687-1468G>A	XP_011516482.1:n.687-1468G>A
XM_017014232.1:c.2242G>A	XP_016869721.1:p.Gly748Ser
XM_017014233.1:c.1864G>A	XP_016869722.1:p.Gly622Ser
XM_017014234.2:c.1264G>A	XP_016869723.1:p.Gly422Ser
XM_017014235.1:c.2234+652G>A	XP_016869724.1:n.2234+652G>A
XR_001746171.1:n.3194-1468G>A