Canonical Allele Identifier: CA375415091

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456132C>G , CM000671.2:g.133456132C>G	GRCh38
NC_000009.10:g.135311075C>G	NCBI36
NG_011934.2:g.46794C>G , LRG_544:g.46794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3464C>G MANE Select	ENSP00000347927.2:p.Ala1155Gly
ENST00000355699.6:c.3464C>G	ENSP00000347927.2:p.Ala1155Gly
ENST00000356589.6:c.3371C>G	ENSP00000348997.2:p.Ala1124Gly
ENST00000371910.1:c.20C>G	ENSP00000360978.1:p.Ala7Gly
ENST00000371916.5:c.*933C>G	ENSP00000360984.2:n.*933C>G
ENST00000371929.7:c.3632C>G	ENSP00000360997.3:p.Ala1211Gly
ENST00000485925.5:n.2280C>G
NM_139025.4:c.3632C>G , LRG_544t1:c.3632C>G	NP_620594.1:p.Ala1211Gly
NM_139026.4:c.3371C>G	NP_620595.1:p.Ala1124Gly
NM_139027.4:c.3464C>G	NP_620596.2:p.Ala1155Gly
NR_024514.2:n.2299C>G
XM_011518174.1:c.3242C>G	XP_011516476.1:p.Ala1081Gly
XM_011518175.1:c.*39C>G	XP_011516477.1:n.*39C>G
XM_011518176.1:c.2648C>G	XP_011516478.1:p.Ala883Gly
XM_011518177.1:c.2642C>G	XP_011516479.1:p.Ala881Gly
XM_011518178.1:c.2297C>G	XP_011516480.1:p.Ala766Gly
XM_011518179.1:c.2297C>G	XP_011516481.1:p.Ala766Gly
XM_011518180.1:c.1898C>G	XP_011516482.1:p.Ala633Gly
XM_011518176.3:c.2648C>G	XP_011516478.1:p.Ala883Gly
XM_011518178.2:c.2297C>G	XP_011516480.1:p.Ala766Gly
XM_017014232.1:c.3620C>G	XP_016869721.1:p.Ala1207Gly
XM_017014233.1:c.3242C>G	XP_016869722.1:p.Ala1081Gly
XM_017014234.2:c.2642C>G	XP_016869723.1:p.Ala881Gly
NM_139026.5:c.3371C>G	NP_620595.1:p.Ala1124Gly
NM_139027.5:c.3464C>G	NP_620596.2:p.Ala1155Gly
NM_139025.5:c.3632C>G	NP_620594.1:p.Ala1211Gly
NM_139026.6:c.3371C>G	NP_620595.1:p.Ala1124Gly
NM_139027.6:c.3464C>G MANE Select	NP_620596.2:p.Ala1155Gly
NR_024514.3:n.2301C>G