Canonical Allele Identifier: CA1882673639
Community Standard Title: NM_139027.6(ADAMTS13):c.1582A= (p.Arg528=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133437895A= , CM000671.2:g.133437895A= GRCh38
NC_000009.10:g.135292836A= NCBI36
NG_011934.2:g.28557A= , LRG_544:g.28557A=

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1582A= MANE Select NP_620596.2:p.Arg528=
ENST00000355699.7:c.1582A= MANE Select ENSP00000347927.2:p.Arg528=
NM_139025.4:c.1582A= , LRG_544t1:c.1582A= NP_620594.1:p.Arg528=
NM_139025.5:c.1582A= NP_620594.1:p.Arg528=
NM_139026.4:c.1489A= NP_620595.1:p.Arg497=
NM_139026.5:c.1489A= NP_620595.1:p.Arg497=
NM_139026.6:c.1489A= NP_620595.1:p.Arg497=
NM_139027.4:c.1582A= NP_620596.2:p.Arg528=
NM_139027.5:c.1582A= NP_620596.2:p.Arg528=
NR_024514.2:n.993-1471A=
NR_024514.3:n.995-1471A=
ENST00000355699.6:c.1582A= ENSP00000347927.2:p.Arg528=
ENST00000356589.6:c.1489A= ENSP00000348997.2:p.Arg497=
ENST00000371916.5:c.838A= ENSP00000360984.2:p.Arg280=
ENST00000371929.7:c.1582A= ENSP00000360997.3:p.Arg528=
ENST00000474918.1:c.*386A= ENSP00000435305.1:n.*386A=
ENST00000485925.5:n.974-1471A=
ENST00000495234.5:c.*866A= ENSP00000435274.1:n.*866A=
XM_011518174.1:c.1192A= XP_011516476.1:p.Arg398=
XM_011518175.1:c.1582A= XP_011516477.1:p.Arg528=
XM_011518176.1:c.598A= XP_011516478.1:p.Arg200=
XM_011518176.3:c.598A= XP_011516478.1:p.Arg200=
XM_011518177.1:c.592A= XP_011516479.1:p.Arg198=
XM_011518178.1:c.247A= XP_011516480.1:p.Arg83=
XM_011518178.2:c.247A= XP_011516480.1:p.Arg83=
XM_011518179.1:c.368A= XP_011516481.1:p.Gln123=
XM_011518180.1:c.687-6968A= XP_011516482.1:n.687-6968A=
XM_017014232.1:c.1570A= XP_016869721.1:p.Arg524=
XM_017014233.1:c.1192A= XP_016869722.1:p.Arg398=
XM_017014234.2:c.592A= XP_016869723.1:p.Arg198=
XM_017014235.1:c.1582A= XP_016869724.1:p.Arg528=
XR_001746171.1:n.2807A=