Canonical Allele Identifier: CA375391803

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436925C>G , CM000671.2:g.133436925C>G	GRCh38
NC_000009.10:g.135291866C>G	NCBI36
NG_011934.2:g.27587C>G , LRG_544:g.27587C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1405C>G MANE Select	ENSP00000347927.2:p.His469Asp
ENST00000355699.6:c.1405C>G	ENSP00000347927.2:p.His469Asp
ENST00000356589.6:c.1312C>G	ENSP00000348997.2:p.His438Asp
ENST00000371916.5:c.661C>G	ENSP00000360984.2:p.His221Asp
ENST00000371929.7:c.1405C>G	ENSP00000360997.3:p.His469Asp
ENST00000474918.1:c.*209C>G	ENSP00000435305.1:n.*209C>G
ENST00000485925.5:n.974-2441C>G
ENST00000495234.5:c.*689C>G	ENSP00000435274.1:n.*689C>G
NM_139025.4:c.1405C>G , LRG_544t1:c.1405C>G	NP_620594.1:p.His469Asp
NM_139026.4:c.1312C>G	NP_620595.1:p.His438Asp
NM_139027.4:c.1405C>G	NP_620596.2:p.His469Asp
NR_024514.2:n.993-2441C>G
XM_011518174.1:c.1015C>G	XP_011516476.1:p.His339Asp
XM_011518175.1:c.1405C>G	XP_011516477.1:p.His469Asp
XM_011518176.1:c.421C>G	XP_011516478.1:p.His141Asp
XM_011518177.1:c.415C>G	XP_011516479.1:p.His139Asp
XM_011518178.1:c.70C>G	XP_011516480.1:p.His24Asp
XM_011518179.1:c.191C>G	XP_011516481.1:p.Pro64Arg
XM_011518180.1:c.687-7938C>G	XP_011516482.1:n.687-7938C>G
XM_011518176.3:c.421C>G	XP_011516478.1:p.His141Asp
XM_011518178.2:c.70C>G	XP_011516480.1:p.His24Asp
XM_017014232.1:c.1393C>G	XP_016869721.1:p.His465Asp
XM_017014233.1:c.1015C>G	XP_016869722.1:p.His339Asp
XM_017014234.2:c.415C>G	XP_016869723.1:p.His139Asp
XM_017014235.1:c.1405C>G	XP_016869724.1:p.His469Asp
XR_001746171.1:n.2630C>G
NM_139026.5:c.1312C>G	NP_620595.1:p.His438Asp
NM_139027.5:c.1405C>G	NP_620596.2:p.His469Asp
NM_139025.5:c.1405C>G	NP_620594.1:p.His469Asp
NM_139026.6:c.1312C>G	NP_620595.1:p.His438Asp
NM_139027.6:c.1405C>G MANE Select	NP_620596.2:p.His469Asp
NR_024514.3:n.995-2441C>G