Canonical Allele Identifier: CA358426
Gene: ADAMTS13 HGNC NCBI

Linked Data

ClinVar Variation Id: 242806
dbSNP Id: rs2301612
MyVariant Identifiers: chr9:g.133436862C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436862C>G , CM000671.2:g.133436862C>G GRCh38
NC_000009.10:g.135291803C>G NCBI36
NG_011934.2:g.27524C>G , LRG_544:g.27524C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1342C>G MANE Select ENSP00000347927.2:p.Gln448Glu
ENST00000355699.6:c.1342C>G ENSP00000347927.2:p.Gln448Glu
ENST00000356589.6:c.1249C>G ENSP00000348997.2:p.Gln417Glu
ENST00000371916.5:c.598C>G ENSP00000360984.2:p.Gln200Glu
ENST00000371929.7:c.1342C>G ENSP00000360997.3:p.Gln448Glu
ENST00000474918.1:c.*146C>G ENSP00000435305.1:n.*146C>G
ENST00000485925.5:n.974-2504C>G
ENST00000495234.5:c.*626C>G ENSP00000435274.1:n.*626C>G
NM_139025.4:c.1342C>G , LRG_544t1:c.1342C>G NP_620594.1:p.Gln448Glu
NM_139026.4:c.1249C>G NP_620595.1:p.Gln417Glu
NM_139027.4:c.1342C>G NP_620596.2:p.Gln448Glu
NR_024514.2:n.993-2504C>G
XM_011518174.1:c.952C>G XP_011516476.1:p.Gln318Glu
XM_011518175.1:c.1342C>G XP_011516477.1:p.Gln448Glu
XM_011518176.1:c.358C>G XP_011516478.1:p.Gln120Glu
XM_011518177.1:c.352C>G XP_011516479.1:p.Gln118Glu
XM_011518178.1:c.7C>G XP_011516480.1:p.Gln3Glu
XM_011518179.1:c.128C>G XP_011516481.1:p.Ala43Gly
XM_011518180.1:c.687-8001C>G XP_011516482.1:n.687-8001C>G
XM_011518176.3:c.358C>G XP_011516478.1:p.Gln120Glu
XM_011518178.2:c.7C>G XP_011516480.1:p.Gln3Glu
XM_017014232.1:c.1330C>G XP_016869721.1:p.Gln444Glu
XM_017014233.1:c.952C>G XP_016869722.1:p.Gln318Glu
XM_017014234.2:c.352C>G XP_016869723.1:p.Gln118Glu
XM_017014235.1:c.1342C>G XP_016869724.1:p.Gln448Glu
XR_001746171.1:n.2567C>G
NM_139026.5:c.1249C>G NP_620595.1:p.Gln417Glu
NM_139027.5:c.1342C>G NP_620596.2:p.Gln448Glu
NM_139025.5:c.1342C>G NP_620594.1:p.Gln448Glu
NM_139026.6:c.1249C>G NP_620595.1:p.Gln417Glu
NM_139027.6:c.1342C>G MANE Select NP_620596.2:p.Gln448Glu
NR_024514.3:n.995-2504C>G