Canonical Allele Identifier: CA117742
Gene: ADAMTS13 HGNC NCBI

Linked Data

ClinVar Variation Id: 5799
ClinVar RCV Id: RCV000006155
dbSNP Id: rs121908468
MyVariant Identifiers: chr9:g.133448718T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000355699.7:c.2851T>G MANE Select ENSP00000347927.2:p.Cys951Gly
ENST00000355699.6:c.2851T>G ENSP00000347927.2:p.Cys951Gly
ENST00000356589.6:c.2758T>G ENSP00000348997.2:p.Cys920Gly
ENST00000371916.5:c.*320T>G ENSP00000360984.2:n.*320T>G
ENST00000371929.7:c.2851T>G ENSP00000360997.3:p.Cys951Gly
ENST00000485925.5:n.1667T>G
ENST00000495234.5:c.*1683T>G ENSP00000435274.1:n.*1683T>G
NM_139025.4:c.2851T>G , LRG_544t1:c.2851T>G NP_620594.1:p.Cys951Gly
NM_139026.4:c.2758T>G NP_620595.1:p.Cys920Gly
NM_139027.4:c.2851T>G NP_620596.2:p.Cys951Gly
NR_024514.2:n.1686T>G
XM_011518174.1:c.2461T>G XP_011516476.1:p.Cys821Gly
XM_011518175.1:c.2851T>G XP_011516477.1:p.Cys951Gly
XM_011518176.1:c.1867T>G XP_011516478.1:p.Cys623Gly
XM_011518177.1:c.1861T>G XP_011516479.1:p.Cys621Gly
XM_011518178.1:c.1516T>G XP_011516480.1:p.Cys506Gly
XM_011518179.1:c.1516T>G XP_011516481.1:p.Cys506Gly
XM_011518180.1:c.1117T>G XP_011516482.1:p.Cys373Gly
XM_011518176.3:c.1867T>G XP_011516478.1:p.Cys623Gly
XM_011518178.2:c.1516T>G XP_011516480.1:p.Cys506Gly
XM_017014232.1:c.2839T>G XP_016869721.1:p.Cys947Gly
XM_017014233.1:c.2461T>G XP_016869722.1:p.Cys821Gly
XM_017014234.2:c.1861T>G XP_016869723.1:p.Cys621Gly
XR_001746171.1:n.3624T>G
NM_139026.5:c.2758T>G NP_620595.1:p.Cys920Gly
NM_139027.5:c.2851T>G NP_620596.2:p.Cys951Gly
NM_139025.5:c.2851T>G NP_620594.1:p.Cys951Gly
NM_139026.6:c.2758T>G NP_620595.1:p.Cys920Gly
NM_139027.6:c.2851T>G MANE Select NP_620596.2:p.Cys951Gly
NR_024514.3:n.1688T>G