Canonical Allele Identifier: CA220022

Gene: ADAMTS13

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454548C>T , CM000671.2:g.133454548C>T	GRCh38
NC_000009.10:g.135309491C>T	NCBI36
NG_011934.2:g.45210C>T , LRG_544:g.45210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3178C>T MANE Select	ENSP00000347927.2:p.Arg1060Trp
ENST00000355699.6:c.3178C>T	ENSP00000347927.2:p.Arg1060Trp
ENST00000356589.6:c.3085C>T	ENSP00000348997.2:p.Arg1029Trp
ENST00000371916.5:c.*647C>T	ENSP00000360984.2:n.*647C>T
ENST00000371929.7:c.3178C>T	ENSP00000360997.3:p.Arg1060Trp
ENST00000485925.5:n.1994C>T
NM_139025.4:c.3178C>T , LRG_544t1:c.3178C>T	NP_620594.1:p.Arg1060Trp
NM_139026.4:c.3085C>T	NP_620595.1:p.Arg1029Trp
NM_139027.4:c.3178C>T	NP_620596.2:p.Arg1060Trp
NR_024514.2:n.2013C>T
XM_011518174.1:c.2788C>T	XP_011516476.1:p.Arg930Trp
XM_011518175.1:c.3178C>T	XP_011516477.1:p.Arg1060Trp
XM_011518176.1:c.2194C>T	XP_011516478.1:p.Arg732Trp
XM_011518177.1:c.2188C>T	XP_011516479.1:p.Arg730Trp
XM_011518178.1:c.1843C>T	XP_011516480.1:p.Arg615Trp
XM_011518179.1:c.1843C>T	XP_011516481.1:p.Arg615Trp
XM_011518180.1:c.1444C>T	XP_011516482.1:p.Arg482Trp
XM_011518176.3:c.2194C>T	XP_011516478.1:p.Arg732Trp
XM_011518178.2:c.1843C>T	XP_011516480.1:p.Arg615Trp
XM_017014232.1:c.3166C>T	XP_016869721.1:p.Arg1056Trp
XM_017014233.1:c.2788C>T	XP_016869722.1:p.Arg930Trp
XM_017014234.2:c.2188C>T	XP_016869723.1:p.Arg730Trp
NM_139026.5:c.3085C>T	NP_620595.1:p.Arg1029Trp
NM_139027.5:c.3178C>T	NP_620596.2:p.Arg1060Trp
NM_139025.5:c.3178C>T	NP_620594.1:p.Arg1060Trp
NM_139026.6:c.3085C>T	NP_620595.1:p.Arg1029Trp
NM_139027.6:c.3178C>T MANE Select	NP_620596.2:p.Arg1060Trp
NR_024514.3:n.2015C>T