Canonical Allele Identifier: CA2838013372

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456088C>T , CM000671.2:g.133456088C>T	GRCh38
NC_000009.10:g.135311031C>T	NCBI36
NG_011934.2:g.46750C>T , LRG_544:g.46750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3420C>T MANE Select	ENSP00000347927.2:p.His1140=
ENST00000355699.6:c.3420C>T	ENSP00000347927.2:p.His1140=
ENST00000356589.6:c.3327C>T	ENSP00000348997.2:p.His1109=
ENST00000371910.1:c.-25C>T	ENSP00000360978.1:n.-25C>T
ENST00000371916.5:c.*889C>T	ENSP00000360984.2:n.*889C>T
ENST00000371929.7:c.3588C>T	ENSP00000360997.3:p.His1196=
ENST00000485925.5:n.2236C>T
NM_139025.4:c.3588C>T , LRG_544t1:c.3588C>T	NP_620594.1:p.His1196=
NM_139026.4:c.3327C>T	NP_620595.1:p.His1109=
NM_139027.4:c.3420C>T	NP_620596.2:p.His1140=
NR_024514.2:n.2255C>T
XM_011518174.1:c.3198C>T	XP_011516476.1:p.His1066=
XM_011518175.1:c.3589C>T	XP_011516477.1:p.Pro1197Ser
XM_011518176.1:c.2604C>T	XP_011516478.1:p.His868=
XM_011518177.1:c.2598C>T	XP_011516479.1:p.His866=
XM_011518178.1:c.2253C>T	XP_011516480.1:p.His751=
XM_011518179.1:c.2253C>T	XP_011516481.1:p.His751=
XM_011518180.1:c.1854C>T	XP_011516482.1:p.His618=
XM_011518176.3:c.2604C>T	XP_011516478.1:p.His868=
XM_011518178.2:c.2253C>T	XP_011516480.1:p.His751=
XM_017014232.1:c.3576C>T	XP_016869721.1:p.His1192=
XM_017014233.1:c.3198C>T	XP_016869722.1:p.His1066=
XM_017014234.2:c.2598C>T	XP_016869723.1:p.His866=
NM_139026.5:c.3327C>T	NP_620595.1:p.His1109=
NM_139027.5:c.3420C>T	NP_620596.2:p.His1140=
NM_139025.5:c.3588C>T	NP_620594.1:p.His1196=
NM_139026.6:c.3327C>T	NP_620595.1:p.His1109=
NM_139027.6:c.3420C>T MANE Select	NP_620596.2:p.His1140=
NR_024514.3:n.2257C>T