Canonical Allele Identifier: CA200929658
Gene: ADAMTS13 HGNC NCBI

Linked Data

dbSNP Id: rs782433445
MyVariant Identifiers: chr9:g.133436895C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436895C>G , CM000671.2:g.133436895C>G GRCh38
NC_000009.10:g.135291836C>G NCBI36
NG_011934.2:g.27557C>G , LRG_544:g.27557C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1375C>G MANE Select ENSP00000347927.2:p.Arg459Gly
ENST00000355699.6:c.1375C>G ENSP00000347927.2:p.Arg459Gly
ENST00000356589.6:c.1282C>G ENSP00000348997.2:p.Arg428Gly
ENST00000371916.5:c.631C>G ENSP00000360984.2:p.Arg211Gly
ENST00000371929.7:c.1375C>G ENSP00000360997.3:p.Arg459Gly
ENST00000474918.1:c.*179C>G ENSP00000435305.1:n.*179C>G
ENST00000485925.5:n.974-2471C>G
ENST00000495234.5:c.*659C>G ENSP00000435274.1:n.*659C>G
NM_139025.4:c.1375C>G , LRG_544t1:c.1375C>G NP_620594.1:p.Arg459Gly
NM_139026.4:c.1282C>G NP_620595.1:p.Arg428Gly
NM_139027.4:c.1375C>G NP_620596.2:p.Arg459Gly
NR_024514.2:n.993-2471C>G
XM_011518174.1:c.985C>G XP_011516476.1:p.Arg329Gly
XM_011518175.1:c.1375C>G XP_011516477.1:p.Arg459Gly
XM_011518176.1:c.391C>G XP_011516478.1:p.Arg131Gly
XM_011518177.1:c.385C>G XP_011516479.1:p.Arg129Gly
XM_011518178.1:c.40C>G XP_011516480.1:p.Arg14Gly
XM_011518179.1:c.161C>G XP_011516481.1:p.Ala54Gly
XM_011518180.1:c.687-7968C>G XP_011516482.1:n.687-7968C>G
XM_011518176.3:c.391C>G XP_011516478.1:p.Arg131Gly
XM_011518178.2:c.40C>G XP_011516480.1:p.Arg14Gly
XM_017014232.1:c.1363C>G XP_016869721.1:p.Arg455Gly
XM_017014233.1:c.985C>G XP_016869722.1:p.Arg329Gly
XM_017014234.2:c.385C>G XP_016869723.1:p.Arg129Gly
XM_017014235.1:c.1375C>G XP_016869724.1:p.Arg459Gly
XR_001746171.1:n.2600C>G
NM_139026.5:c.1282C>G NP_620595.1:p.Arg428Gly
NM_139027.5:c.1375C>G NP_620596.2:p.Arg459Gly
NM_139025.5:c.1375C>G NP_620594.1:p.Arg459Gly
NM_139026.6:c.1282C>G NP_620595.1:p.Arg428Gly
NM_139027.6:c.1375C>G MANE Select NP_620596.2:p.Arg459Gly
NR_024514.3:n.995-2471C>G