Canonical Allele Identifier: CA375389474
Community Standard Title: NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133433473C>G , CM000671.2:g.133433473C>G GRCh38
NC_000009.10:g.135288414C>G NCBI36
NG_011934.2:g.24135C>G , LRG_544:g.24135C>G

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1188C>G MANE Select NP_620596.2:p.Cys396Trp
ENST00000355699.7:c.1188C>G MANE Select ENSP00000347927.2:p.Cys396Trp
NM_139025.4:c.1188C>G , LRG_544t1:c.1188C>G NP_620594.1:p.Cys396Trp
NM_139025.5:c.1188C>G NP_620594.1:p.Cys396Trp
NM_139026.4:c.1095C>G NP_620595.1:p.Cys365Trp
NM_139026.5:c.1095C>G NP_620595.1:p.Cys365Trp
NM_139026.6:c.1095C>G NP_620595.1:p.Cys365Trp
NM_139027.4:c.1188C>G NP_620596.2:p.Cys396Trp
NM_139027.5:c.1188C>G NP_620596.2:p.Cys396Trp
NR_024514.2:n.992+781C>G
NR_024514.3:n.994+781C>G
ENST00000355699.6:c.1188C>G ENSP00000347927.2:p.Cys396Trp
ENST00000356589.6:c.1095C>G ENSP00000348997.2:p.Cys365Trp
ENST00000371916.5:c.444C>G ENSP00000360984.2:p.Cys148Trp
ENST00000371929.7:c.1188C>G ENSP00000360997.3:p.Cys396Trp
ENST00000474918.1:c.*56C>G ENSP00000435305.1:n.*56C>G
ENST00000485925.5:n.973+781C>G
ENST00000495234.5:c.*472C>G ENSP00000435274.1:n.*472C>G
XM_011518174.1:c.798C>G XP_011516476.1:p.Cys266Trp
XM_011518175.1:c.1188C>G XP_011516477.1:p.Cys396Trp
XM_011518176.1:c.204C>G XP_011516478.1:p.Cys68Trp
XM_011518176.3:c.204C>G XP_011516478.1:p.Cys68Trp
XM_011518177.1:c.198C>G XP_011516479.1:p.Cys66Trp
XM_011518178.1:c.-84C>G XP_011516480.1:n.-84C>G
XM_011518178.2:c.-84C>G XP_011516480.1:n.-84C>G
XM_011518179.1:c.38C>G XP_011516481.1:p.Ala13Gly
XM_011518180.1:c.686+7128C>G XP_011516482.1:n.686+7128C>G
XM_017014232.1:c.1176C>G XP_016869721.1:p.Cys392Trp
XM_017014233.1:c.798C>G XP_016869722.1:p.Cys266Trp
XM_017014234.2:c.198C>G XP_016869723.1:p.Cys66Trp
XM_017014235.1:c.1188C>G XP_016869724.1:p.Cys396Trp
XR_001746171.1:n.2413C>G