Canonical Allele Identifier: CA1882677436
Community Standard Title: NM_139027.6(ADAMTS13):c.2851T= (p.Cys951=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133448718T= , CM000671.2:g.133448718T= GRCh38
NC_000009.10:g.135303660T= NCBI36
NG_011934.2:g.39380T= , LRG_544:g.39380T=

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.2851T= MANE Select NP_620596.2:p.Cys951=
ENST00000355699.7:c.2851T= MANE Select ENSP00000347927.2:p.Cys951=
NM_139025.4:c.2851T= , LRG_544t1:c.2851T= NP_620594.1:p.Cys951=
NM_139025.5:c.2851T= NP_620594.1:p.Cys951=
NM_139026.4:c.2758T= NP_620595.1:p.Cys920=
NM_139026.5:c.2758T= NP_620595.1:p.Cys920=
NM_139026.6:c.2758T= NP_620595.1:p.Cys920=
NM_139027.4:c.2851T= NP_620596.2:p.Cys951=
NM_139027.5:c.2851T= NP_620596.2:p.Cys951=
NR_024514.2:n.1686T=
NR_024514.3:n.1688T=
ENST00000355699.6:c.2851T= ENSP00000347927.2:p.Cys951=
ENST00000356589.6:c.2758T= ENSP00000348997.2:p.Cys920=
ENST00000371916.5:c.*320T= ENSP00000360984.2:n.*320T=
ENST00000371929.7:c.2851T= ENSP00000360997.3:p.Cys951=
ENST00000485925.5:n.1667T=
ENST00000495234.5:c.*1683T= ENSP00000435274.1:n.*1683T=
XM_011518174.1:c.2461T= XP_011516476.1:p.Cys821=
XM_011518175.1:c.2851T= XP_011516477.1:p.Cys951=
XM_011518176.1:c.1867T= XP_011516478.1:p.Cys623=
XM_011518176.3:c.1867T= XP_011516478.1:p.Cys623=
XM_011518177.1:c.1861T= XP_011516479.1:p.Cys621=
XM_011518178.1:c.1516T= XP_011516480.1:p.Cys506=
XM_011518178.2:c.1516T= XP_011516480.1:p.Cys506=
XM_011518179.1:c.1516T= XP_011516481.1:p.Cys506=
XM_011518180.1:c.1117T= XP_011516482.1:p.Cys373=
XM_017014232.1:c.2839T= XP_016869721.1:p.Cys947=
XM_017014233.1:c.2461T= XP_016869722.1:p.Cys821=
XM_017014234.2:c.1861T= XP_016869723.1:p.Cys621=
XR_001746171.1:n.3624T=