Canonical Allele Identifier: CA200932571

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133440478G>A , CM000671.2:g.133440478G>A	GRCh38
NC_000009.10:g.135295420G>A	NCBI36
NG_011934.2:g.31140G>A , LRG_544:g.31140G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1921G>A MANE Select	NP_620596.2:p.Glu641Lys
ENST00000355699.7:c.1921G>A MANE Select	ENSP00000347927.2:p.Glu641Lys
NM_139025.4:c.1921G>A , LRG_544t1:c.1921G>A	NP_620594.1:p.Glu641Lys
NM_139025.5:c.1921G>A	NP_620594.1:p.Glu641Lys
NM_139026.4:c.1828G>A	NP_620595.1:p.Glu610Lys
NM_139026.5:c.1828G>A	NP_620595.1:p.Glu610Lys
NM_139026.6:c.1828G>A	NP_620595.1:p.Glu610Lys
NM_139027.4:c.1921G>A	NP_620596.2:p.Glu641Lys
NM_139027.5:c.1921G>A	NP_620596.2:p.Glu641Lys
NR_024514.2:n.1208G>A
NR_024514.3:n.1210G>A
ENST00000355699.6:c.1921G>A	ENSP00000347927.2:p.Glu641Lys
ENST00000356589.6:c.1828G>A	ENSP00000348997.2:p.Glu610Lys
ENST00000371916.5:c.1177G>A	ENSP00000360984.2:p.Glu393Lys
ENST00000371929.7:c.1921G>A	ENSP00000360997.3:p.Glu641Lys
ENST00000474918.1:c.*725G>A	ENSP00000435305.1:n.*725G>A
ENST00000485925.5:n.1189G>A
ENST00000495234.5:c.*1205G>A	ENSP00000435274.1:n.*1205G>A
XM_011518174.1:c.1531G>A	XP_011516476.1:p.Glu511Lys
XM_011518175.1:c.1921G>A	XP_011516477.1:p.Glu641Lys
XM_011518176.1:c.937G>A	XP_011516478.1:p.Glu313Lys
XM_011518176.3:c.937G>A	XP_011516478.1:p.Glu313Lys
XM_011518177.1:c.931G>A	XP_011516479.1:p.Glu311Lys
XM_011518178.1:c.586G>A	XP_011516480.1:p.Glu196Lys
XM_011518178.2:c.586G>A	XP_011516480.1:p.Glu196Lys
XM_011518179.1:c.586G>A	XP_011516481.1:p.Glu196Lys
XM_011518180.1:c.687-4385G>A	XP_011516482.1:n.687-4385G>A
XM_017014232.1:c.1909G>A	XP_016869721.1:p.Glu637Lys
XM_017014233.1:c.1531G>A	XP_016869722.1:p.Glu511Lys
XM_017014234.2:c.931G>A	XP_016869723.1:p.Glu311Lys
XM_017014235.1:c.1921G>A	XP_016869724.1:p.Glu641Lys
XR_001746171.1:n.3146G>A