Canonical Allele Identifier: CA375410314

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1564442755
• MyVariant Identifiers: chr9:g.133454494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454494C>A , CM000671.2:g.133454494C>A	GRCh38
NC_000009.10:g.135309437C>A	NCBI36
NG_011934.2:g.45156C>A , LRG_544:g.45156C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3124C>A MANE Select	ENSP00000347927.2:p.Leu1042Ile
ENST00000355699.6:c.3124C>A	ENSP00000347927.2:p.Leu1042Ile
ENST00000356589.6:c.3031C>A	ENSP00000348997.2:p.Leu1011Ile
ENST00000371916.5:c.*593C>A	ENSP00000360984.2:n.*593C>A
ENST00000371929.7:c.3124C>A	ENSP00000360997.3:p.Leu1042Ile
ENST00000485925.5:n.1940C>A
NM_139025.4:c.3124C>A , LRG_544t1:c.3124C>A	NP_620594.1:p.Leu1042Ile
NM_139026.4:c.3031C>A	NP_620595.1:p.Leu1011Ile
NM_139027.4:c.3124C>A	NP_620596.2:p.Leu1042Ile
NR_024514.2:n.1959C>A
XM_011518174.1:c.2734C>A	XP_011516476.1:p.Leu912Ile
XM_011518175.1:c.3124C>A	XP_011516477.1:p.Leu1042Ile
XM_011518176.1:c.2140C>A	XP_011516478.1:p.Leu714Ile
XM_011518177.1:c.2134C>A	XP_011516479.1:p.Leu712Ile
XM_011518178.1:c.1789C>A	XP_011516480.1:p.Leu597Ile
XM_011518179.1:c.1789C>A	XP_011516481.1:p.Leu597Ile
XM_011518180.1:c.1390C>A	XP_011516482.1:p.Leu464Ile
XM_011518176.3:c.2140C>A	XP_011516478.1:p.Leu714Ile
XM_011518178.2:c.1789C>A	XP_011516480.1:p.Leu597Ile
XM_017014232.1:c.3112C>A	XP_016869721.1:p.Leu1038Ile
XM_017014233.1:c.2734C>A	XP_016869722.1:p.Leu912Ile
XM_017014234.2:c.2134C>A	XP_016869723.1:p.Leu712Ile
NM_139026.5:c.3031C>A	NP_620595.1:p.Leu1011Ile
NM_139027.5:c.3124C>A	NP_620596.2:p.Leu1042Ile
NM_139025.5:c.3124C>A	NP_620594.1:p.Leu1042Ile
NM_139026.6:c.3031C>A	NP_620595.1:p.Leu1011Ile
NM_139027.6:c.3124C>A MANE Select	NP_620596.2:p.Leu1042Ile
NR_024514.3:n.1961C>A