Canonical Allele Identifier: CA219974
Community Standard Title: NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133432645C>T , CM000671.2:g.133432645C>T GRCh38
NC_000009.10:g.135287587C>T NCBI36
NG_011934.2:g.23307C>T , LRG_544:g.23307C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1045C>T MANE Select NP_620596.2:p.Arg349Cys
ENST00000355699.7:c.1045C>T MANE Select ENSP00000347927.2:p.Arg349Cys
NM_139025.4:c.1045C>T , LRG_544t1:c.1045C>T NP_620594.1:p.Arg349Cys
NM_139025.5:c.1045C>T NP_620594.1:p.Arg349Cys
NM_139026.4:c.952C>T NP_620595.1:p.Arg318Cys
NM_139026.5:c.952C>T NP_620595.1:p.Arg318Cys
NM_139026.6:c.952C>T NP_620595.1:p.Arg318Cys
NM_139027.4:c.1045C>T NP_620596.2:p.Arg349Cys
NM_139027.5:c.1045C>T NP_620596.2:p.Arg349Cys
NR_024514.2:n.945C>T
NR_024514.3:n.947C>T
ENST00000355699.6:c.1045C>T ENSP00000347927.2:p.Arg349Cys
ENST00000356589.6:c.952C>T ENSP00000348997.2:p.Arg318Cys
ENST00000371916.5:c.301C>T ENSP00000360984.2:p.Arg101Cys
ENST00000371929.7:c.1045C>T ENSP00000360997.3:p.Arg349Cys
ENST00000474918.1:c.744C>T ENSP00000435305.1:p.Ala248=
ENST00000485925.5:n.926C>T
ENST00000495234.5:c.*329C>T ENSP00000435274.1:n.*329C>T
XM_011518174.1:c.655C>T XP_011516476.1:p.Arg219Cys
XM_011518175.1:c.1045C>T XP_011516477.1:p.Arg349Cys
XM_011518176.1:c.61C>T XP_011516478.1:p.Arg21Cys
XM_011518176.3:c.61C>T XP_011516478.1:p.Arg21Cys
XM_011518177.1:c.55C>T XP_011516479.1:p.Arg19Cys
XM_011518179.1:c.-106C>T XP_011516481.1:n.-106C>T
XM_011518180.1:c.686+6300C>T XP_011516482.1:n.686+6300C>T
XM_017014232.1:c.1033C>T XP_016869721.1:p.Arg345Cys
XM_017014233.1:c.655C>T XP_016869722.1:p.Arg219Cys
XM_017014234.2:c.55C>T XP_016869723.1:p.Arg19Cys
XM_017014235.1:c.1045C>T XP_016869724.1:p.Arg349Cys
XR_001746171.1:n.2270C>T