Canonical Allele Identifier: CA1882681632
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454519T= , CM000671.2:g.133454519T= GRCh38
NC_000009.10:g.135309462T= NCBI36
NG_011934.2:g.45181T= , LRG_544:g.45181T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3149T= MANE Select ENSP00000347927.2:p.Val1050=
ENST00000355699.6:c.3149T= ENSP00000347927.2:p.Val1050=
ENST00000356589.6:c.3056T= ENSP00000348997.2:p.Val1019=
ENST00000371916.5:c.*618T= ENSP00000360984.2:n.*618T=
ENST00000371929.7:c.3149T= ENSP00000360997.3:p.Val1050=
ENST00000485925.5:n.1965T=
NM_139025.4:c.3149T= , LRG_544t1:c.3149T= NP_620594.1:p.Val1050=
NM_139026.4:c.3056T= NP_620595.1:p.Val1019=
NM_139027.4:c.3149T= NP_620596.2:p.Val1050=
NR_024514.2:n.1984T=
XM_011518174.1:c.2759T= XP_011516476.1:p.Val920=
XM_011518175.1:c.3149T= XP_011516477.1:p.Val1050=
XM_011518176.1:c.2165T= XP_011516478.1:p.Val722=
XM_011518177.1:c.2159T= XP_011516479.1:p.Val720=
XM_011518178.1:c.1814T= XP_011516480.1:p.Val605=
XM_011518179.1:c.1814T= XP_011516481.1:p.Val605=
XM_011518180.1:c.1415T= XP_011516482.1:p.Val472=
XM_011518176.3:c.2165T= XP_011516478.1:p.Val722=
XM_011518178.2:c.1814T= XP_011516480.1:p.Val605=
XM_017014232.1:c.3137T= XP_016869721.1:p.Val1046=
XM_017014233.1:c.2759T= XP_016869722.1:p.Val920=
XM_017014234.2:c.2159T= XP_016869723.1:p.Val720=
NM_139026.5:c.3056T= NP_620595.1:p.Val1019=
NM_139027.5:c.3149T= NP_620596.2:p.Val1050=
NM_139025.5:c.3149T= NP_620594.1:p.Val1050=
NM_139026.6:c.3056T= NP_620595.1:p.Val1019=
NM_139027.6:c.3149T= MANE Select NP_620596.2:p.Val1050=
NR_024514.3:n.1986T=