Canonical Allele Identifier: CA200933928

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133442498G>A , CM000671.2:g.133442498G>A	GRCh38
NC_000009.10:g.135297440G>A	NCBI36
NG_011934.2:g.33160G>A , LRG_544:g.33160G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2068G>A MANE Select	NP_620596.2:p.Ala690Thr
ENST00000355699.7:c.2068G>A MANE Select	ENSP00000347927.2:p.Ala690Thr
NM_139025.4:c.2068G>A , LRG_544t1:c.2068G>A	NP_620594.1:p.Ala690Thr
NM_139025.5:c.2068G>A	NP_620594.1:p.Ala690Thr
NM_139026.4:c.1975G>A	NP_620595.1:p.Ala659Thr
NM_139026.5:c.1975G>A	NP_620595.1:p.Ala659Thr
NM_139026.6:c.1975G>A	NP_620595.1:p.Ala659Thr
NM_139027.4:c.2068G>A	NP_620596.2:p.Ala690Thr
NM_139027.5:c.2068G>A	NP_620596.2:p.Ala690Thr
NR_024514.2:n.1255+1973G>A
NR_024514.3:n.1257+1973G>A
ENST00000355699.6:c.2068G>A	ENSP00000347927.2:p.Ala690Thr
ENST00000356589.6:c.1975G>A	ENSP00000348997.2:p.Ala659Thr
ENST00000371916.5:c.1224+1973G>A	ENSP00000360984.2:n.1224+1973G>A
ENST00000371929.7:c.2068G>A	ENSP00000360997.3:p.Ala690Thr
ENST00000474918.1:c.*773-878G>A	ENSP00000435305.1:n.*773-878G>A
ENST00000485925.5:n.1236+1973G>A
ENST00000495234.5:c.*1252+1973G>A	ENSP00000435274.1:n.*1252+1973G>A
XM_011518174.1:c.1678G>A	XP_011516476.1:p.Ala560Thr
XM_011518175.1:c.2068G>A	XP_011516477.1:p.Ala690Thr
XM_011518176.1:c.1084G>A	XP_011516478.1:p.Ala362Thr
XM_011518176.3:c.1084G>A	XP_011516478.1:p.Ala362Thr
XM_011518177.1:c.1078G>A	XP_011516479.1:p.Ala360Thr
XM_011518178.1:c.733G>A	XP_011516480.1:p.Ala245Thr
XM_011518178.2:c.733G>A	XP_011516480.1:p.Ala245Thr
XM_011518179.1:c.733G>A	XP_011516481.1:p.Ala245Thr
XM_011518180.1:c.687-2365G>A	XP_011516482.1:n.687-2365G>A
XM_017014232.1:c.2056G>A	XP_016869721.1:p.Ala686Thr
XM_017014233.1:c.1678G>A	XP_016869722.1:p.Ala560Thr
XM_017014234.2:c.1078G>A	XP_016869723.1:p.Ala360Thr
XM_017014235.1:c.2068G>A	XP_016869724.1:p.Ala690Thr
XR_001746171.1:n.3193+1973G>A