Canonical Allele Identifier: CA220025
Community Standard Title: NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133455402C>T , CM000671.2:g.133455402C>T GRCh38
NC_000009.10:g.135310345C>T NCBI36
NG_011934.2:g.46064C>T , LRG_544:g.46064C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.3367C>T MANE Select NP_620596.2:p.Arg1123Cys
ENST00000355699.7:c.3367C>T MANE Select ENSP00000347927.2:p.Arg1123Cys
NM_139025.4:c.3367C>T , LRG_544t1:c.3367C>T NP_620594.1:p.Arg1123Cys
NM_139025.5:c.3367C>T NP_620594.1:p.Arg1123Cys
NM_139026.4:c.3274C>T NP_620595.1:p.Arg1092Cys
NM_139026.5:c.3274C>T NP_620595.1:p.Arg1092Cys
NM_139026.6:c.3274C>T NP_620595.1:p.Arg1092Cys
NM_139027.4:c.3367C>T NP_620596.2:p.Arg1123Cys
NM_139027.5:c.3367C>T NP_620596.2:p.Arg1123Cys
NR_024514.2:n.2202C>T
NR_024514.3:n.2204C>T
ENST00000355699.6:c.3367C>T ENSP00000347927.2:p.Arg1123Cys
ENST00000356589.6:c.3274C>T ENSP00000348997.2:p.Arg1092Cys
ENST00000371916.5:c.*836C>T ENSP00000360984.2:n.*836C>T
ENST00000371929.7:c.3367C>T ENSP00000360997.3:p.Arg1123Cys
ENST00000485925.5:n.2183C>T
XM_011518174.1:c.2977C>T XP_011516476.1:p.Arg993Cys
XM_011518175.1:c.3367C>T XP_011516477.1:p.Arg1123Cys
XM_011518176.1:c.2383C>T XP_011516478.1:p.Arg795Cys
XM_011518176.3:c.2383C>T XP_011516478.1:p.Arg795Cys
XM_011518177.1:c.2377C>T XP_011516479.1:p.Arg793Cys
XM_011518178.1:c.2032C>T XP_011516480.1:p.Arg678Cys
XM_011518178.2:c.2032C>T XP_011516480.1:p.Arg678Cys
XM_011518179.1:c.2032C>T XP_011516481.1:p.Arg678Cys
XM_011518180.1:c.1633C>T XP_011516482.1:p.Arg545Cys
XM_017014232.1:c.3355C>T XP_016869721.1:p.Arg1119Cys
XM_017014233.1:c.2977C>T XP_016869722.1:p.Arg993Cys
XM_017014234.2:c.2377C>T XP_016869723.1:p.Arg793Cys