Canonical Allele Identifier: CA220004
Community Standard Title: NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133442447A>T , CM000671.2:g.133442447A>T GRCh38
NC_000009.10:g.135297389A>T NCBI36
NG_011934.2:g.33109A>T , LRG_544:g.33109A>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.2017A>T MANE Select NP_620596.2:p.Ile673Phe
ENST00000355699.7:c.2017A>T MANE Select ENSP00000347927.2:p.Ile673Phe
NM_139025.4:c.2017A>T , LRG_544t1:c.2017A>T NP_620594.1:p.Ile673Phe
NM_139025.5:c.2017A>T NP_620594.1:p.Ile673Phe
NM_139026.4:c.1924A>T NP_620595.1:p.Ile642Phe
NM_139026.5:c.1924A>T NP_620595.1:p.Ile642Phe
NM_139026.6:c.1924A>T NP_620595.1:p.Ile642Phe
NM_139027.4:c.2017A>T NP_620596.2:p.Ile673Phe
NM_139027.5:c.2017A>T NP_620596.2:p.Ile673Phe
NR_024514.2:n.1255+1922A>T
NR_024514.3:n.1257+1922A>T
ENST00000355699.6:c.2017A>T ENSP00000347927.2:p.Ile673Phe
ENST00000356589.6:c.1924A>T ENSP00000348997.2:p.Ile642Phe
ENST00000371916.5:c.1224+1922A>T ENSP00000360984.2:n.1224+1922A>T
ENST00000371929.7:c.2017A>T ENSP00000360997.3:p.Ile673Phe
ENST00000474918.1:c.*773-929A>T ENSP00000435305.1:n.*773-929A>T
ENST00000485925.5:n.1236+1922A>T
ENST00000495234.5:c.*1252+1922A>T ENSP00000435274.1:n.*1252+1922A>T
XM_011518174.1:c.1627A>T XP_011516476.1:p.Ile543Phe
XM_011518175.1:c.2017A>T XP_011516477.1:p.Ile673Phe
XM_011518176.1:c.1033A>T XP_011516478.1:p.Ile345Phe
XM_011518176.3:c.1033A>T XP_011516478.1:p.Ile345Phe
XM_011518177.1:c.1027A>T XP_011516479.1:p.Ile343Phe
XM_011518178.1:c.682A>T XP_011516480.1:p.Ile228Phe
XM_011518178.2:c.682A>T XP_011516480.1:p.Ile228Phe
XM_011518179.1:c.682A>T XP_011516481.1:p.Ile228Phe
XM_011518180.1:c.687-2416A>T XP_011516482.1:n.687-2416A>T
XM_017014232.1:c.2005A>T XP_016869721.1:p.Ile669Phe
XM_017014233.1:c.1627A>T XP_016869722.1:p.Ile543Phe
XM_017014234.2:c.1027A>T XP_016869723.1:p.Ile343Phe
XM_017014235.1:c.2017A>T XP_016869724.1:p.Ile673Phe
XR_001746171.1:n.3193+1922A>T