Canonical Allele Identifier: CA375391446

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436839A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436839A>C , CM000671.2:g.133436839A>C	GRCh38
NC_000009.10:g.135291780A>C	NCBI36
NG_011934.2:g.27501A>C , LRG_544:g.27501A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1319A>C MANE Select	ENSP00000347927.2:p.Lys440Thr
ENST00000355699.6:c.1319A>C	ENSP00000347927.2:p.Lys440Thr
ENST00000356589.6:c.1226A>C	ENSP00000348997.2:p.Lys409Thr
ENST00000371916.5:c.575A>C	ENSP00000360984.2:p.Lys192Thr
ENST00000371929.7:c.1319A>C	ENSP00000360997.3:p.Lys440Thr
ENST00000474918.1:c.*123A>C	ENSP00000435305.1:n.*123A>C
ENST00000485925.5:n.974-2527A>C
ENST00000495234.5:c.*603A>C	ENSP00000435274.1:n.*603A>C
NM_139025.4:c.1319A>C , LRG_544t1:c.1319A>C	NP_620594.1:p.Lys440Thr
NM_139026.4:c.1226A>C	NP_620595.1:p.Lys409Thr
NM_139027.4:c.1319A>C	NP_620596.2:p.Lys440Thr
NR_024514.2:n.993-2527A>C
XM_011518174.1:c.929A>C	XP_011516476.1:p.Lys310Thr
XM_011518175.1:c.1319A>C	XP_011516477.1:p.Lys440Thr
XM_011518176.1:c.335A>C	XP_011516478.1:p.Lys112Thr
XM_011518177.1:c.329A>C	XP_011516479.1:p.Lys110Thr
XM_011518178.1:c.-17A>C	XP_011516480.1:n.-17A>C
XM_011518179.1:c.105A>C	XP_011516481.1:p.Glu35Asp
XM_011518180.1:c.687-8024A>C	XP_011516482.1:n.687-8024A>C
XM_011518176.3:c.335A>C	XP_011516478.1:p.Lys112Thr
XM_011518178.2:c.-17A>C	XP_011516480.1:n.-17A>C
XM_017014232.1:c.1307A>C	XP_016869721.1:p.Lys436Thr
XM_017014233.1:c.929A>C	XP_016869722.1:p.Lys310Thr
XM_017014234.2:c.329A>C	XP_016869723.1:p.Lys110Thr
XM_017014235.1:c.1319A>C	XP_016869724.1:p.Lys440Thr
XR_001746171.1:n.2544A>C
NM_139026.5:c.1226A>C	NP_620595.1:p.Lys409Thr
NM_139027.5:c.1319A>C	NP_620596.2:p.Lys440Thr
NM_139025.5:c.1319A>C	NP_620594.1:p.Lys440Thr
NM_139026.6:c.1226A>C	NP_620595.1:p.Lys409Thr
NM_139027.6:c.1319A>C MANE Select	NP_620596.2:p.Lys440Thr
NR_024514.3:n.995-2527A>C