Canonical Allele Identifier: CA10633059
Community Standard Title: NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133442726C>T , CM000671.2:g.133442726C>T GRCh38
NC_000009.10:g.135297668C>T NCBI36
NG_011934.2:g.33388C>T , LRG_544:g.33388C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.2217C>T MANE Select NP_620596.2:p.Leu739=
ENST00000355699.7:c.2217C>T MANE Select ENSP00000347927.2:p.Leu739=
NM_139025.4:c.2217C>T , LRG_544t1:c.2217C>T NP_620594.1:p.Leu739=
NM_139025.5:c.2217C>T NP_620594.1:p.Leu739=
NM_139026.4:c.2124C>T NP_620595.1:p.Leu708=
NM_139026.5:c.2124C>T NP_620595.1:p.Leu708=
NM_139026.6:c.2124C>T NP_620595.1:p.Leu708=
NM_139027.4:c.2217C>T NP_620596.2:p.Leu739=
NM_139027.5:c.2217C>T NP_620596.2:p.Leu739=
NR_024514.2:n.1256-2137C>T
NR_024514.3:n.1258-2137C>T
ENST00000355699.6:c.2217C>T ENSP00000347927.2:p.Leu739=
ENST00000356589.6:c.2124C>T ENSP00000348997.2:p.Leu708=
ENST00000371916.5:c.1225-2137C>T ENSP00000360984.2:n.1225-2137C>T
ENST00000371929.7:c.2217C>T ENSP00000360997.3:p.Leu739=
ENST00000474918.1:c.*773-650C>T ENSP00000435305.1:n.*773-650C>T
ENST00000485925.5:n.1237-2137C>T
ENST00000495234.5:c.*1253-2137C>T ENSP00000435274.1:n.*1253-2137C>T
XM_011518174.1:c.1827C>T XP_011516476.1:p.Leu609=
XM_011518175.1:c.2217C>T XP_011516477.1:p.Leu739=
XM_011518176.1:c.1233C>T XP_011516478.1:p.Leu411=
XM_011518176.3:c.1233C>T XP_011516478.1:p.Leu411=
XM_011518177.1:c.1227C>T XP_011516479.1:p.Leu409=
XM_011518178.1:c.882C>T XP_011516480.1:p.Leu294=
XM_011518178.2:c.882C>T XP_011516480.1:p.Leu294=
XM_011518179.1:c.882C>T XP_011516481.1:p.Leu294=
XM_011518180.1:c.687-2137C>T XP_011516482.1:n.687-2137C>T
XM_017014232.1:c.2205C>T XP_016869721.1:p.Leu735=
XM_017014233.1:c.1827C>T XP_016869722.1:p.Leu609=
XM_017014234.2:c.1227C>T XP_016869723.1:p.Leu409=
XM_017014235.1:c.2217C>T XP_016869724.1:p.Leu739=
XR_001746171.1:n.3194-2137C>T