Canonical Allele Identifier: CA375391922

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436954A>C , CM000671.2:g.133436954A>C	GRCh38
NC_000009.10:g.135291895A>C	NCBI36
NG_011934.2:g.27616A>C , LRG_544:g.27616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1434A>C MANE Select	ENSP00000347927.2:p.Gln478His
ENST00000355699.6:c.1434A>C	ENSP00000347927.2:p.Gln478His
ENST00000356589.6:c.1341A>C	ENSP00000348997.2:p.Gln447His
ENST00000371916.5:c.690A>C	ENSP00000360984.2:p.Gln230His
ENST00000371929.7:c.1434A>C	ENSP00000360997.3:p.Gln478His
ENST00000474918.1:c.*238A>C	ENSP00000435305.1:n.*238A>C
ENST00000485925.5:n.974-2412A>C
ENST00000495234.5:c.*718A>C	ENSP00000435274.1:n.*718A>C
NM_139025.4:c.1434A>C , LRG_544t1:c.1434A>C	NP_620594.1:p.Gln478His
NM_139026.4:c.1341A>C	NP_620595.1:p.Gln447His
NM_139027.4:c.1434A>C	NP_620596.2:p.Gln478His
NR_024514.2:n.993-2412A>C
XM_011518174.1:c.1044A>C	XP_011516476.1:p.Gln348His
XM_011518175.1:c.1434A>C	XP_011516477.1:p.Gln478His
XM_011518176.1:c.450A>C	XP_011516478.1:p.Gln150His
XM_011518177.1:c.444A>C	XP_011516479.1:p.Gln148His
XM_011518178.1:c.99A>C	XP_011516480.1:p.Gln33His
XM_011518179.1:c.220A>C	XP_011516481.1:p.Arg74=
XM_011518180.1:c.687-7909A>C	XP_011516482.1:n.687-7909A>C
XM_011518176.3:c.450A>C	XP_011516478.1:p.Gln150His
XM_011518178.2:c.99A>C	XP_011516480.1:p.Gln33His
XM_017014232.1:c.1422A>C	XP_016869721.1:p.Gln474His
XM_017014233.1:c.1044A>C	XP_016869722.1:p.Gln348His
XM_017014234.2:c.444A>C	XP_016869723.1:p.Gln148His
XM_017014235.1:c.1434A>C	XP_016869724.1:p.Gln478His
XR_001746171.1:n.2659A>C
NM_139026.5:c.1341A>C	NP_620595.1:p.Gln447His
NM_139027.5:c.1434A>C	NP_620596.2:p.Gln478His
NM_139025.5:c.1434A>C	NP_620594.1:p.Gln478His
NM_139026.6:c.1341A>C	NP_620595.1:p.Gln447His
NM_139027.6:c.1434A>C MANE Select	NP_620596.2:p.Gln478His
NR_024514.3:n.995-2412A>C