Canonical Allele Identifier: CA375391796

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436923A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436923A>T , CM000671.2:g.133436923A>T	GRCh38
NC_000009.10:g.135291864A>T	NCBI36
NG_011934.2:g.27585A>T , LRG_544:g.27585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1403A>T MANE Select	ENSP00000347927.2:p.Tyr468Phe
ENST00000355699.6:c.1403A>T	ENSP00000347927.2:p.Tyr468Phe
ENST00000356589.6:c.1310A>T	ENSP00000348997.2:p.Tyr437Phe
ENST00000371916.5:c.659A>T	ENSP00000360984.2:p.Tyr220Phe
ENST00000371929.7:c.1403A>T	ENSP00000360997.3:p.Tyr468Phe
ENST00000474918.1:c.*207A>T	ENSP00000435305.1:n.*207A>T
ENST00000485925.5:n.974-2443A>T
ENST00000495234.5:c.*687A>T	ENSP00000435274.1:n.*687A>T
NM_139025.4:c.1403A>T , LRG_544t1:c.1403A>T	NP_620594.1:p.Tyr468Phe
NM_139026.4:c.1310A>T	NP_620595.1:p.Tyr437Phe
NM_139027.4:c.1403A>T	NP_620596.2:p.Tyr468Phe
NR_024514.2:n.993-2443A>T
XM_011518174.1:c.1013A>T	XP_011516476.1:p.Tyr338Phe
XM_011518175.1:c.1403A>T	XP_011516477.1:p.Tyr468Phe
XM_011518176.1:c.419A>T	XP_011516478.1:p.Tyr140Phe
XM_011518177.1:c.413A>T	XP_011516479.1:p.Tyr138Phe
XM_011518178.1:c.68A>T	XP_011516480.1:p.Tyr23Phe
XM_011518179.1:c.189A>T	XP_011516481.1:p.Leu63=
XM_011518180.1:c.687-7940A>T	XP_011516482.1:n.687-7940A>T
XM_011518176.3:c.419A>T	XP_011516478.1:p.Tyr140Phe
XM_011518178.2:c.68A>T	XP_011516480.1:p.Tyr23Phe
XM_017014232.1:c.1391A>T	XP_016869721.1:p.Tyr464Phe
XM_017014233.1:c.1013A>T	XP_016869722.1:p.Tyr338Phe
XM_017014234.2:c.413A>T	XP_016869723.1:p.Tyr138Phe
XM_017014235.1:c.1403A>T	XP_016869724.1:p.Tyr468Phe
XR_001746171.1:n.2628A>T
NM_139026.5:c.1310A>T	NP_620595.1:p.Tyr437Phe
NM_139027.5:c.1403A>T	NP_620596.2:p.Tyr468Phe
NM_139025.5:c.1403A>T	NP_620594.1:p.Tyr468Phe
NM_139026.6:c.1310A>T	NP_620595.1:p.Tyr437Phe
NM_139027.6:c.1403A>T MANE Select	NP_620596.2:p.Tyr468Phe
NR_024514.3:n.995-2443A>T