Canonical Allele Identifier: CA375391466

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436845A>C , CM000671.2:g.133436845A>C	GRCh38
NC_000009.10:g.135291786A>C	NCBI36
NG_011934.2:g.27507A>C , LRG_544:g.27507A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1325A>C MANE Select	ENSP00000347927.2:p.Gln442Pro
ENST00000355699.6:c.1325A>C	ENSP00000347927.2:p.Gln442Pro
ENST00000356589.6:c.1232A>C	ENSP00000348997.2:p.Gln411Pro
ENST00000371916.5:c.581A>C	ENSP00000360984.2:p.Gln194Pro
ENST00000371929.7:c.1325A>C	ENSP00000360997.3:p.Gln442Pro
ENST00000474918.1:c.*129A>C	ENSP00000435305.1:n.*129A>C
ENST00000485925.5:n.974-2521A>C
ENST00000495234.5:c.*609A>C	ENSP00000435274.1:n.*609A>C
NM_139025.4:c.1325A>C , LRG_544t1:c.1325A>C	NP_620594.1:p.Gln442Pro
NM_139026.4:c.1232A>C	NP_620595.1:p.Gln411Pro
NM_139027.4:c.1325A>C	NP_620596.2:p.Gln442Pro
NR_024514.2:n.993-2521A>C
XM_011518174.1:c.935A>C	XP_011516476.1:p.Gln312Pro
XM_011518175.1:c.1325A>C	XP_011516477.1:p.Gln442Pro
XM_011518176.1:c.341A>C	XP_011516478.1:p.Gln114Pro
XM_011518177.1:c.335A>C	XP_011516479.1:p.Gln112Pro
XM_011518178.1:c.-11A>C	XP_011516480.1:n.-11A>C
XM_011518179.1:c.111A>C	XP_011516481.1:p.Pro37=
XM_011518180.1:c.687-8018A>C	XP_011516482.1:n.687-8018A>C
XM_011518176.3:c.341A>C	XP_011516478.1:p.Gln114Pro
XM_011518178.2:c.-11A>C	XP_011516480.1:n.-11A>C
XM_017014232.1:c.1313A>C	XP_016869721.1:p.Gln438Pro
XM_017014233.1:c.935A>C	XP_016869722.1:p.Gln312Pro
XM_017014234.2:c.335A>C	XP_016869723.1:p.Gln112Pro
XM_017014235.1:c.1325A>C	XP_016869724.1:p.Gln442Pro
XR_001746171.1:n.2550A>C
NM_139026.5:c.1232A>C	NP_620595.1:p.Gln411Pro
NM_139027.5:c.1325A>C	NP_620596.2:p.Gln442Pro
NM_139025.5:c.1325A>C	NP_620594.1:p.Gln442Pro
NM_139026.6:c.1232A>C	NP_620595.1:p.Gln411Pro
NM_139027.6:c.1325A>C MANE Select	NP_620596.2:p.Gln442Pro
NR_024514.3:n.995-2521A>C