Canonical Allele Identifier: CA1882682443
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456116C= , CM000671.2:g.133456116C= GRCh38
NC_000009.10:g.135311059C= NCBI36
NG_011934.2:g.46778C= , LRG_544:g.46778C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3448C= MANE Select ENSP00000347927.2:p.Arg1150=
ENST00000355699.6:c.3448C= ENSP00000347927.2:p.Arg1150=
ENST00000356589.6:c.3355C= ENSP00000348997.2:p.Arg1119=
ENST00000371910.1:c.4C= ENSP00000360978.1:p.Arg2=
ENST00000371916.5:c.*917C= ENSP00000360984.2:n.*917C=
ENST00000371929.7:c.3616C= ENSP00000360997.3:p.Arg1206=
ENST00000485925.5:n.2264C=
NM_139025.4:c.3616C= , LRG_544t1:c.3616C= NP_620594.1:p.Arg1206=
NM_139026.4:c.3355C= NP_620595.1:p.Arg1119=
NM_139027.4:c.3448C= NP_620596.2:p.Arg1150=
NR_024514.2:n.2283C=
XM_011518174.1:c.3226C= XP_011516476.1:p.Arg1076=
XM_011518175.1:c.*23C= XP_011516477.1:n.*23C=
XM_011518176.1:c.2632C= XP_011516478.1:p.Arg878=
XM_011518177.1:c.2626C= XP_011516479.1:p.Arg876=
XM_011518178.1:c.2281C= XP_011516480.1:p.Arg761=
XM_011518179.1:c.2281C= XP_011516481.1:p.Arg761=
XM_011518180.1:c.1882C= XP_011516482.1:p.Arg628=
XM_011518176.3:c.2632C= XP_011516478.1:p.Arg878=
XM_011518178.2:c.2281C= XP_011516480.1:p.Arg761=
XM_017014232.1:c.3604C= XP_016869721.1:p.Arg1202=
XM_017014233.1:c.3226C= XP_016869722.1:p.Arg1076=
XM_017014234.2:c.2626C= XP_016869723.1:p.Arg876=
NM_139026.5:c.3355C= NP_620595.1:p.Arg1119=
NM_139027.5:c.3448C= NP_620596.2:p.Arg1150=
NM_139025.5:c.3616C= NP_620594.1:p.Arg1206=
NM_139026.6:c.3355C= NP_620595.1:p.Arg1119=
NM_139027.6:c.3448C= MANE Select NP_620596.2:p.Arg1150=
NR_024514.3:n.2285C=