Canonical Allele Identifier: CA220007
Community Standard Title: NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133443413T>C , CM000671.2:g.133443413T>C GRCh38
NC_000009.10:g.135298355T>C NCBI36
NG_011934.2:g.34075T>C , LRG_544:g.34075T>C

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.2272T>C MANE Select NP_620596.2:p.Cys758Arg
ENST00000355699.7:c.2272T>C MANE Select ENSP00000347927.2:p.Cys758Arg
NM_139025.4:c.2272T>C , LRG_544t1:c.2272T>C NP_620594.1:p.Cys758Arg
NM_139025.5:c.2272T>C NP_620594.1:p.Cys758Arg
NM_139026.4:c.2179T>C NP_620595.1:p.Cys727Arg
NM_139026.5:c.2179T>C NP_620595.1:p.Cys727Arg
NM_139026.6:c.2179T>C NP_620595.1:p.Cys727Arg
NM_139027.4:c.2272T>C NP_620596.2:p.Cys758Arg
NM_139027.5:c.2272T>C NP_620596.2:p.Cys758Arg
NR_024514.2:n.1256-1450T>C
NR_024514.3:n.1258-1450T>C
ENST00000355699.6:c.2272T>C ENSP00000347927.2:p.Cys758Arg
ENST00000356589.6:c.2179T>C ENSP00000348997.2:p.Cys727Arg
ENST00000371916.5:c.1225-1450T>C ENSP00000360984.2:n.1225-1450T>C
ENST00000371929.7:c.2272T>C ENSP00000360997.3:p.Cys758Arg
ENST00000474918.1:c.*810T>C ENSP00000435305.1:n.*810T>C
ENST00000485925.5:n.1237-1450T>C
ENST00000495234.5:c.*1253-1450T>C ENSP00000435274.1:n.*1253-1450T>C
XM_011518174.1:c.1882T>C XP_011516476.1:p.Cys628Arg
XM_011518175.1:c.2272T>C XP_011516477.1:p.Cys758Arg
XM_011518176.1:c.1288T>C XP_011516478.1:p.Cys430Arg
XM_011518176.3:c.1288T>C XP_011516478.1:p.Cys430Arg
XM_011518177.1:c.1282T>C XP_011516479.1:p.Cys428Arg
XM_011518178.1:c.937T>C XP_011516480.1:p.Cys313Arg
XM_011518178.2:c.937T>C XP_011516480.1:p.Cys313Arg
XM_011518179.1:c.937T>C XP_011516481.1:p.Cys313Arg
XM_011518180.1:c.687-1450T>C XP_011516482.1:n.687-1450T>C
XM_017014232.1:c.2260T>C XP_016869721.1:p.Cys754Arg
XM_017014233.1:c.1882T>C XP_016869722.1:p.Cys628Arg
XM_017014234.2:c.1282T>C XP_016869723.1:p.Cys428Arg
XM_017014235.1:c.2234+670T>C XP_016869724.1:n.2234+670T>C
XR_001746171.1:n.3194-1450T>C