Canonical Allele Identifier: CA200927187
Community Standard Title: NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133433657C>T , CM000671.2:g.133433657C>T GRCh38
NC_000009.10:g.135288598C>T NCBI36
NG_011934.2:g.24319C>T , LRG_544:g.24319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1261C>T MANE Select NP_620596.2:p.Arg421Cys
ENST00000355699.7:c.1261C>T MANE Select ENSP00000347927.2:p.Arg421Cys
NM_139025.4:c.1261C>T , LRG_544t1:c.1261C>T NP_620594.1:p.Arg421Cys
NM_139025.5:c.1261C>T NP_620594.1:p.Arg421Cys
NM_139026.4:c.1168C>T NP_620595.1:p.Arg390Cys
NM_139026.5:c.1168C>T NP_620595.1:p.Arg390Cys
NM_139026.6:c.1168C>T NP_620595.1:p.Arg390Cys
NM_139027.4:c.1261C>T NP_620596.2:p.Arg421Cys
NM_139027.5:c.1261C>T NP_620596.2:p.Arg421Cys
NR_024514.2:n.992+965C>T
NR_024514.3:n.994+965C>T
ENST00000355699.6:c.1261C>T ENSP00000347927.2:p.Arg421Cys
ENST00000356589.6:c.1168C>T ENSP00000348997.2:p.Arg390Cys
ENST00000371916.5:c.517C>T ENSP00000360984.2:p.Arg173Cys
ENST00000371929.7:c.1261C>T ENSP00000360997.3:p.Arg421Cys
ENST00000474918.1:c.*112+128C>T ENSP00000435305.1:n.*112+128C>T
ENST00000485925.5:n.973+965C>T
ENST00000495234.5:c.*545C>T ENSP00000435274.1:n.*545C>T
XM_011518174.1:c.871C>T XP_011516476.1:p.Arg291Cys
XM_011518175.1:c.1261C>T XP_011516477.1:p.Arg421Cys
XM_011518176.1:c.277C>T XP_011516478.1:p.Arg93Cys
XM_011518176.3:c.277C>T XP_011516478.1:p.Arg93Cys
XM_011518177.1:c.271C>T XP_011516479.1:p.Arg91Cys
XM_011518178.1:c.-28+128C>T XP_011516480.1:n.-28+128C>T
XM_011518178.2:c.-28+128C>T XP_011516480.1:n.-28+128C>T
XM_011518179.1:c.94+128C>T XP_011516481.1:n.94+128C>T
XM_011518180.1:c.686+7312C>T XP_011516482.1:n.686+7312C>T
XM_017014232.1:c.1249C>T XP_016869721.1:p.Arg417Cys
XM_017014233.1:c.871C>T XP_016869722.1:p.Arg291Cys
XM_017014234.2:c.271C>T XP_016869723.1:p.Arg91Cys
XM_017014235.1:c.1261C>T XP_016869724.1:p.Arg421Cys
XR_001746171.1:n.2486C>T