Canonical Allele Identifier: CA375391544

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436863A>T , CM000671.2:g.133436863A>T	GRCh38
NC_000009.10:g.135291804A>T	NCBI36
NG_011934.2:g.27525A>T , LRG_544:g.27525A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1343A>T MANE Select	ENSP00000347927.2:p.Gln448Leu
ENST00000355699.6:c.1343A>T	ENSP00000347927.2:p.Gln448Leu
ENST00000356589.6:c.1250A>T	ENSP00000348997.2:p.Gln417Leu
ENST00000371916.5:c.599A>T	ENSP00000360984.2:p.Gln200Leu
ENST00000371929.7:c.1343A>T	ENSP00000360997.3:p.Gln448Leu
ENST00000474918.1:c.*147A>T	ENSP00000435305.1:n.*147A>T
ENST00000485925.5:n.974-2503A>T
ENST00000495234.5:c.*627A>T	ENSP00000435274.1:n.*627A>T
NM_139025.4:c.1343A>T , LRG_544t1:c.1343A>T	NP_620594.1:p.Gln448Leu
NM_139026.4:c.1250A>T	NP_620595.1:p.Gln417Leu
NM_139027.4:c.1343A>T	NP_620596.2:p.Gln448Leu
NR_024514.2:n.993-2503A>T
XM_011518174.1:c.953A>T	XP_011516476.1:p.Gln318Leu
XM_011518175.1:c.1343A>T	XP_011516477.1:p.Gln448Leu
XM_011518176.1:c.359A>T	XP_011516478.1:p.Gln120Leu
XM_011518177.1:c.353A>T	XP_011516479.1:p.Gln118Leu
XM_011518178.1:c.8A>T	XP_011516480.1:p.Gln3Leu
XM_011518179.1:c.129A>T	XP_011516481.1:p.Ala43=
XM_011518180.1:c.687-8000A>T	XP_011516482.1:n.687-8000A>T
XM_011518176.3:c.359A>T	XP_011516478.1:p.Gln120Leu
XM_011518178.2:c.8A>T	XP_011516480.1:p.Gln3Leu
XM_017014232.1:c.1331A>T	XP_016869721.1:p.Gln444Leu
XM_017014233.1:c.953A>T	XP_016869722.1:p.Gln318Leu
XM_017014234.2:c.353A>T	XP_016869723.1:p.Gln118Leu
XM_017014235.1:c.1343A>T	XP_016869724.1:p.Gln448Leu
XR_001746171.1:n.2568A>T
NM_139026.5:c.1250A>T	NP_620595.1:p.Gln417Leu
NM_139027.5:c.1343A>T	NP_620596.2:p.Gln448Leu
NM_139025.5:c.1343A>T	NP_620594.1:p.Gln448Leu
NM_139026.6:c.1250A>T	NP_620595.1:p.Gln417Leu
NM_139027.6:c.1343A>T MANE Select	NP_620596.2:p.Gln448Leu
NR_024514.3:n.995-2503A>T