Canonical Allele Identifier: CA200929700
Community Standard Title: NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436912C>T , CM000671.2:g.133436912C>T GRCh38
NC_000009.10:g.135291853C>T NCBI36
NG_011934.2:g.27574C>T , LRG_544:g.27574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1392C>T MANE Select NP_620596.2:p.Gly464=
ENST00000355699.7:c.1392C>T MANE Select ENSP00000347927.2:p.Gly464=
NM_139025.4:c.1392C>T , LRG_544t1:c.1392C>T NP_620594.1:p.Gly464=
NM_139025.5:c.1392C>T NP_620594.1:p.Gly464=
NM_139026.4:c.1299C>T NP_620595.1:p.Gly433=
NM_139026.5:c.1299C>T NP_620595.1:p.Gly433=
NM_139026.6:c.1299C>T NP_620595.1:p.Gly433=
NM_139027.4:c.1392C>T NP_620596.2:p.Gly464=
NM_139027.5:c.1392C>T NP_620596.2:p.Gly464=
NR_024514.2:n.993-2454C>T
NR_024514.3:n.995-2454C>T
ENST00000355699.6:c.1392C>T ENSP00000347927.2:p.Gly464=
ENST00000356589.6:c.1299C>T ENSP00000348997.2:p.Gly433=
ENST00000371916.5:c.648C>T ENSP00000360984.2:p.Gly216=
ENST00000371929.7:c.1392C>T ENSP00000360997.3:p.Gly464=
ENST00000474918.1:c.*196C>T ENSP00000435305.1:n.*196C>T
ENST00000485925.5:n.974-2454C>T
ENST00000495234.5:c.*676C>T ENSP00000435274.1:n.*676C>T
XM_011518174.1:c.1002C>T XP_011516476.1:p.Gly334=
XM_011518175.1:c.1392C>T XP_011516477.1:p.Gly464=
XM_011518176.1:c.408C>T XP_011516478.1:p.Gly136=
XM_011518176.3:c.408C>T XP_011516478.1:p.Gly136=
XM_011518177.1:c.402C>T XP_011516479.1:p.Gly134=
XM_011518178.1:c.57C>T XP_011516480.1:p.Gly19=
XM_011518178.2:c.57C>T XP_011516480.1:p.Gly19=
XM_011518179.1:c.178C>T XP_011516481.1:p.Arg60Cys
XM_011518180.1:c.687-7951C>T XP_011516482.1:n.687-7951C>T
XM_017014232.1:c.1380C>T XP_016869721.1:p.Gly460=
XM_017014233.1:c.1002C>T XP_016869722.1:p.Gly334=
XM_017014234.2:c.402C>T XP_016869723.1:p.Gly134=
XM_017014235.1:c.1392C>T XP_016869724.1:p.Gly464=
XR_001746171.1:n.2617C>T