Canonical Allele Identifier: CA200930791
Community Standard Title: NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133438352C>A , CM000671.2:g.133438352C>A GRCh38
NC_000009.10:g.135293293C>A NCBI36
NG_011934.2:g.29014C>A , LRG_544:g.29014C>A

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1691C>A MANE Select NP_620596.2:p.Ala564Asp
ENST00000355699.7:c.1691C>A MANE Select ENSP00000347927.2:p.Ala564Asp
NM_139025.4:c.1691C>A , LRG_544t1:c.1691C>A NP_620594.1:p.Ala564Asp
NM_139025.5:c.1691C>A NP_620594.1:p.Ala564Asp
NM_139026.4:c.1598C>A NP_620595.1:p.Ala533Asp
NM_139026.5:c.1598C>A NP_620595.1:p.Ala533Asp
NM_139026.6:c.1598C>A NP_620595.1:p.Ala533Asp
NM_139027.4:c.1691C>A NP_620596.2:p.Ala564Asp
NM_139027.5:c.1691C>A NP_620596.2:p.Ala564Asp
NR_024514.2:n.993-1014C>A
NR_024514.3:n.995-1014C>A
ENST00000355699.6:c.1691C>A ENSP00000347927.2:p.Ala564Asp
ENST00000356589.6:c.1598C>A ENSP00000348997.2:p.Ala533Asp
ENST00000371916.5:c.947C>A ENSP00000360984.2:p.Ala316Asp
ENST00000371929.7:c.1691C>A ENSP00000360997.3:p.Ala564Asp
ENST00000474918.1:c.*495C>A ENSP00000435305.1:n.*495C>A
ENST00000485925.5:n.974-1014C>A
ENST00000495234.5:c.*975C>A ENSP00000435274.1:n.*975C>A
XM_011518174.1:c.1301C>A XP_011516476.1:p.Ala434Asp
XM_011518175.1:c.1691C>A XP_011516477.1:p.Ala564Asp
XM_011518176.1:c.707C>A XP_011516478.1:p.Ala236Asp
XM_011518176.3:c.707C>A XP_011516478.1:p.Ala236Asp
XM_011518177.1:c.701C>A XP_011516479.1:p.Ala234Asp
XM_011518178.1:c.356C>A XP_011516480.1:p.Ala119Asp
XM_011518178.2:c.356C>A XP_011516480.1:p.Ala119Asp
XM_011518179.1:c.370+455C>A XP_011516481.1:n.370+455C>A
XM_011518180.1:c.687-6511C>A XP_011516482.1:n.687-6511C>A
XM_017014232.1:c.1679C>A XP_016869721.1:p.Ala560Asp
XM_017014233.1:c.1301C>A XP_016869722.1:p.Ala434Asp
XM_017014234.2:c.701C>A XP_016869723.1:p.Ala234Asp
XM_017014235.1:c.1691C>A XP_016869724.1:p.Ala564Asp
XR_001746171.1:n.2916C>A