Canonical Allele Identifier: CA2692367644

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456709C>T , CM000671.2:g.133456709C>T	GRCh38
NC_000009.10:g.135311652C>T	NCBI36
NG_011934.2:g.47371C>T , LRG_544:g.47371C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3714C>T MANE Select	NP_620596.2:p.Thr1238=
ENST00000355699.7:c.3714C>T MANE Select	ENSP00000347927.2:p.Thr1238=
NM_139025.4:c.3882C>T , LRG_544t1:c.3882C>T	NP_620594.1:p.Thr1294=
NM_139025.5:c.3882C>T	NP_620594.1:p.Thr1294=
NM_139026.4:c.3621C>T	NP_620595.1:p.Thr1207=
NM_139026.5:c.3621C>T	NP_620595.1:p.Thr1207=
NM_139026.6:c.3621C>T	NP_620595.1:p.Thr1207=
NM_139027.4:c.3714C>T	NP_620596.2:p.Thr1238=
NM_139027.5:c.3714C>T	NP_620596.2:p.Thr1238=
NR_024514.2:n.2549C>T
NR_024514.3:n.2551C>T
ENST00000355699.6:c.3714C>T	ENSP00000347927.2:p.Thr1238=
ENST00000356589.6:c.3621C>T	ENSP00000348997.2:p.Thr1207=
ENST00000371910.1:c.270C>T	ENSP00000360978.1:p.Thr90=
ENST00000371916.5:c.*1183C>T	ENSP00000360984.2:n.*1183C>T
ENST00000371929.7:c.3882C>T	ENSP00000360997.3:p.Thr1294=
ENST00000485925.5:n.2530C>T
XM_011518174.1:c.3492C>T	XP_011516476.1:p.Thr1164=
XM_011518176.1:c.2898C>T	XP_011516478.1:p.Thr966=
XM_011518176.3:c.2898C>T	XP_011516478.1:p.Thr966=
XM_011518177.1:c.2892C>T	XP_011516479.1:p.Thr964=
XM_011518178.1:c.2547C>T	XP_011516480.1:p.Thr849=
XM_011518178.2:c.2547C>T	XP_011516480.1:p.Thr849=
XM_011518179.1:c.2547C>T	XP_011516481.1:p.Thr849=
XM_011518180.1:c.2148C>T	XP_011516482.1:p.Thr716=
XM_017014232.1:c.3870C>T	XP_016869721.1:p.Thr1290=
XM_017014233.1:c.3492C>T	XP_016869722.1:p.Thr1164=
XM_017014234.2:c.2892C>T	XP_016869723.1:p.Thr964=