Canonical Allele Identifier: CA375415200
Gene: ADAMTS13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133456144T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456144T>A , CM000671.2:g.133456144T>A GRCh38
NC_000009.10:g.135311087T>A NCBI36
NG_011934.2:g.46806T>A , LRG_544:g.46806T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3476T>A MANE Select ENSP00000347927.2:p.Val1159Glu
ENST00000355699.6:c.3476T>A ENSP00000347927.2:p.Val1159Glu
ENST00000356589.6:c.3383T>A ENSP00000348997.2:p.Val1128Glu
ENST00000371910.1:c.32T>A ENSP00000360978.1:p.Val11Glu
ENST00000371916.5:c.*945T>A ENSP00000360984.2:n.*945T>A
ENST00000371929.7:c.3644T>A ENSP00000360997.3:p.Val1215Glu
ENST00000485925.5:n.2292T>A
NM_139025.4:c.3644T>A , LRG_544t1:c.3644T>A NP_620594.1:p.Val1215Glu
NM_139026.4:c.3383T>A NP_620595.1:p.Val1128Glu
NM_139027.4:c.3476T>A NP_620596.2:p.Val1159Glu
NR_024514.2:n.2311T>A
XM_011518174.1:c.3254T>A XP_011516476.1:p.Val1085Glu
XM_011518175.1:c.*51T>A XP_011516477.1:n.*51T>A
XM_011518176.1:c.2660T>A XP_011516478.1:p.Val887Glu
XM_011518177.1:c.2654T>A XP_011516479.1:p.Val885Glu
XM_011518178.1:c.2309T>A XP_011516480.1:p.Val770Glu
XM_011518179.1:c.2309T>A XP_011516481.1:p.Val770Glu
XM_011518180.1:c.1910T>A XP_011516482.1:p.Val637Glu
XM_011518176.3:c.2660T>A XP_011516478.1:p.Val887Glu
XM_011518178.2:c.2309T>A XP_011516480.1:p.Val770Glu
XM_017014232.1:c.3632T>A XP_016869721.1:p.Val1211Glu
XM_017014233.1:c.3254T>A XP_016869722.1:p.Val1085Glu
XM_017014234.2:c.2654T>A XP_016869723.1:p.Val885Glu
NM_139026.5:c.3383T>A NP_620595.1:p.Val1128Glu
NM_139027.5:c.3476T>A NP_620596.2:p.Val1159Glu
NM_139025.5:c.3644T>A NP_620594.1:p.Val1215Glu
NM_139026.6:c.3383T>A NP_620595.1:p.Val1128Glu
NM_139027.6:c.3476T>A MANE Select NP_620596.2:p.Val1159Glu
NR_024514.3:n.2313T>A