Canonical Allele Identifier: CA860743402

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133455467C>T , CM000671.2:g.133455467C>T	GRCh38
NC_000009.10:g.135310410C>T	NCBI36
NG_011934.2:g.46129C>T , LRG_544:g.46129C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3400+32C>T MANE Select	NP_620596.2:n.3400+32C>T
ENST00000355699.7:c.3400+32C>T MANE Select	ENSP00000347927.2:n.3400+32C>T
NM_139025.4:c.3432C>T , LRG_544t1:c.3432C>T	NP_620594.1:p.Ala1144=
NM_139025.5:c.3432C>T	NP_620594.1:p.Ala1144=
NM_139026.4:c.3307+32C>T	NP_620595.1:n.3307+32C>T
NM_139026.5:c.3307+32C>T	NP_620595.1:n.3307+32C>T
NM_139026.6:c.3307+32C>T	NP_620595.1:n.3307+32C>T
NM_139027.4:c.3400+32C>T	NP_620596.2:n.3400+32C>T
NM_139027.5:c.3400+32C>T	NP_620596.2:n.3400+32C>T
NR_024514.2:n.2235+32C>T
NR_024514.3:n.2237+32C>T
ENST00000355699.6:c.3400+32C>T	ENSP00000347927.2:n.3400+32C>T
ENST00000356589.6:c.3307+32C>T	ENSP00000348997.2:n.3307+32C>T
ENST00000371916.5:c.*869+32C>T	ENSP00000360984.2:n.*869+32C>T
ENST00000371929.7:c.3432C>T	ENSP00000360997.3:p.Ala1144=
ENST00000485925.5:n.2216+32C>T
XM_011518174.1:c.3042C>T	XP_011516476.1:p.Ala1014=
XM_011518175.1:c.3432C>T	XP_011516477.1:p.Ala1144=
XM_011518176.1:c.2448C>T	XP_011516478.1:p.Ala816=
XM_011518176.3:c.2448C>T	XP_011516478.1:p.Ala816=
XM_011518177.1:c.2442C>T	XP_011516479.1:p.Ala814=
XM_011518178.1:c.2097C>T	XP_011516480.1:p.Ala699=
XM_011518178.2:c.2097C>T	XP_011516480.1:p.Ala699=
XM_011518179.1:c.2097C>T	XP_011516481.1:p.Ala699=
XM_011518180.1:c.1698C>T	XP_011516482.1:p.Ala566=
XM_017014232.1:c.3420C>T	XP_016869721.1:p.Ala1140=
XM_017014233.1:c.3042C>T	XP_016869722.1:p.Ala1014=
XM_017014234.2:c.2442C>T	XP_016869723.1:p.Ala814=