Canonical Allele Identifier: CA375410671

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454543T>G , CM000671.2:g.133454543T>G	GRCh38
NC_000009.10:g.135309486T>G	NCBI36
NG_011934.2:g.45205T>G , LRG_544:g.45205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3173T>G MANE Select	ENSP00000347927.2:p.Leu1058Arg
ENST00000355699.6:c.3173T>G	ENSP00000347927.2:p.Leu1058Arg
ENST00000356589.6:c.3080T>G	ENSP00000348997.2:p.Leu1027Arg
ENST00000371916.5:c.*642T>G	ENSP00000360984.2:n.*642T>G
ENST00000371929.7:c.3173T>G	ENSP00000360997.3:p.Leu1058Arg
ENST00000485925.5:n.1989T>G
NM_139025.4:c.3173T>G , LRG_544t1:c.3173T>G	NP_620594.1:p.Leu1058Arg
NM_139026.4:c.3080T>G	NP_620595.1:p.Leu1027Arg
NM_139027.4:c.3173T>G	NP_620596.2:p.Leu1058Arg
NR_024514.2:n.2008T>G
XM_011518174.1:c.2783T>G	XP_011516476.1:p.Leu928Arg
XM_011518175.1:c.3173T>G	XP_011516477.1:p.Leu1058Arg
XM_011518176.1:c.2189T>G	XP_011516478.1:p.Leu730Arg
XM_011518177.1:c.2183T>G	XP_011516479.1:p.Leu728Arg
XM_011518178.1:c.1838T>G	XP_011516480.1:p.Leu613Arg
XM_011518179.1:c.1838T>G	XP_011516481.1:p.Leu613Arg
XM_011518180.1:c.1439T>G	XP_011516482.1:p.Leu480Arg
XM_011518176.3:c.2189T>G	XP_011516478.1:p.Leu730Arg
XM_011518178.2:c.1838T>G	XP_011516480.1:p.Leu613Arg
XM_017014232.1:c.3161T>G	XP_016869721.1:p.Leu1054Arg
XM_017014233.1:c.2783T>G	XP_016869722.1:p.Leu928Arg
XM_017014234.2:c.2183T>G	XP_016869723.1:p.Leu728Arg
NM_139026.5:c.3080T>G	NP_620595.1:p.Leu1027Arg
NM_139027.5:c.3173T>G	NP_620596.2:p.Leu1058Arg
NM_139025.5:c.3173T>G	NP_620594.1:p.Leu1058Arg
NM_139026.6:c.3080T>G	NP_620595.1:p.Leu1027Arg
NM_139027.6:c.3173T>G MANE Select	NP_620596.2:p.Leu1058Arg
NR_024514.3:n.2010T>G