Canonical Allele Identifier: CA375391908

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436951C>G , CM000671.2:g.133436951C>G	GRCh38
NC_000009.10:g.135291892C>G	NCBI36
NG_011934.2:g.27613C>G , LRG_544:g.27613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1431C>G MANE Select	ENSP00000347927.2:p.Ser477Arg
ENST00000355699.6:c.1431C>G	ENSP00000347927.2:p.Ser477Arg
ENST00000356589.6:c.1338C>G	ENSP00000348997.2:p.Ser446Arg
ENST00000371916.5:c.687C>G	ENSP00000360984.2:p.Ser229Arg
ENST00000371929.7:c.1431C>G	ENSP00000360997.3:p.Ser477Arg
ENST00000474918.1:c.*235C>G	ENSP00000435305.1:n.*235C>G
ENST00000485925.5:n.974-2415C>G
ENST00000495234.5:c.*715C>G	ENSP00000435274.1:n.*715C>G
NM_139025.4:c.1431C>G , LRG_544t1:c.1431C>G	NP_620594.1:p.Ser477Arg
NM_139026.4:c.1338C>G	NP_620595.1:p.Ser446Arg
NM_139027.4:c.1431C>G	NP_620596.2:p.Ser477Arg
NR_024514.2:n.993-2415C>G
XM_011518174.1:c.1041C>G	XP_011516476.1:p.Ser347Arg
XM_011518175.1:c.1431C>G	XP_011516477.1:p.Ser477Arg
XM_011518176.1:c.447C>G	XP_011516478.1:p.Ser149Arg
XM_011518177.1:c.441C>G	XP_011516479.1:p.Ser147Arg
XM_011518178.1:c.96C>G	XP_011516480.1:p.Ser32Arg
XM_011518179.1:c.217C>G	XP_011516481.1:p.Pro73Ala
XM_011518180.1:c.687-7912C>G	XP_011516482.1:n.687-7912C>G
XM_011518176.3:c.447C>G	XP_011516478.1:p.Ser149Arg
XM_011518178.2:c.96C>G	XP_011516480.1:p.Ser32Arg
XM_017014232.1:c.1419C>G	XP_016869721.1:p.Ser473Arg
XM_017014233.1:c.1041C>G	XP_016869722.1:p.Ser347Arg
XM_017014234.2:c.441C>G	XP_016869723.1:p.Ser147Arg
XM_017014235.1:c.1431C>G	XP_016869724.1:p.Ser477Arg
XR_001746171.1:n.2656C>G
NM_139026.5:c.1338C>G	NP_620595.1:p.Ser446Arg
NM_139027.5:c.1431C>G	NP_620596.2:p.Ser477Arg
NM_139025.5:c.1431C>G	NP_620594.1:p.Ser477Arg
NM_139026.6:c.1338C>G	NP_620595.1:p.Ser446Arg
NM_139027.6:c.1431C>G MANE Select	NP_620596.2:p.Ser477Arg
NR_024514.3:n.995-2415C>G