Canonical Allele Identifier: CA200932562
Community Standard Title: NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133440473G>A , CM000671.2:g.133440473G>A GRCh38
NC_000009.10:g.135295415G>A NCBI36
NG_011934.2:g.31135G>A , LRG_544:g.31135G>A

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1916G>A MANE Select NP_620596.2:p.Arg639His
ENST00000355699.7:c.1916G>A MANE Select ENSP00000347927.2:p.Arg639His
NM_139025.4:c.1916G>A , LRG_544t1:c.1916G>A NP_620594.1:p.Arg639His
NM_139025.5:c.1916G>A NP_620594.1:p.Arg639His
NM_139026.4:c.1823G>A NP_620595.1:p.Arg608His
NM_139026.5:c.1823G>A NP_620595.1:p.Arg608His
NM_139026.6:c.1823G>A NP_620595.1:p.Arg608His
NM_139027.4:c.1916G>A NP_620596.2:p.Arg639His
NM_139027.5:c.1916G>A NP_620596.2:p.Arg639His
NR_024514.2:n.1203G>A
NR_024514.3:n.1205G>A
ENST00000355699.6:c.1916G>A ENSP00000347927.2:p.Arg639His
ENST00000356589.6:c.1823G>A ENSP00000348997.2:p.Arg608His
ENST00000371916.5:c.1172G>A ENSP00000360984.2:p.Arg391His
ENST00000371929.7:c.1916G>A ENSP00000360997.3:p.Arg639His
ENST00000474918.1:c.*720G>A ENSP00000435305.1:n.*720G>A
ENST00000485925.5:n.1184G>A
ENST00000495234.5:c.*1200G>A ENSP00000435274.1:n.*1200G>A
XM_011518174.1:c.1526G>A XP_011516476.1:p.Arg509His
XM_011518175.1:c.1916G>A XP_011516477.1:p.Arg639His
XM_011518176.1:c.932G>A XP_011516478.1:p.Arg311His
XM_011518176.3:c.932G>A XP_011516478.1:p.Arg311His
XM_011518177.1:c.926G>A XP_011516479.1:p.Arg309His
XM_011518178.1:c.581G>A XP_011516480.1:p.Arg194His
XM_011518178.2:c.581G>A XP_011516480.1:p.Arg194His
XM_011518179.1:c.581G>A XP_011516481.1:p.Arg194His
XM_011518180.1:c.687-4390G>A XP_011516482.1:n.687-4390G>A
XM_017014232.1:c.1904G>A XP_016869721.1:p.Arg635His
XM_017014233.1:c.1526G>A XP_016869722.1:p.Arg509His
XM_017014234.2:c.926G>A XP_016869723.1:p.Arg309His
XM_017014235.1:c.1916G>A XP_016869724.1:p.Arg639His
XR_001746171.1:n.3141G>A