Canonical Allele Identifier: CA375404625

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448718T>C , CM000671.2:g.133448718T>C	GRCh38
NC_000009.10:g.135303660T>C	NCBI36
NG_011934.2:g.39380T>C , LRG_544:g.39380T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2851T>C MANE Select	ENSP00000347927.2:p.Cys951Arg
ENST00000355699.6:c.2851T>C	ENSP00000347927.2:p.Cys951Arg
ENST00000356589.6:c.2758T>C	ENSP00000348997.2:p.Cys920Arg
ENST00000371916.5:c.*320T>C	ENSP00000360984.2:n.*320T>C
ENST00000371929.7:c.2851T>C	ENSP00000360997.3:p.Cys951Arg
ENST00000485925.5:n.1667T>C
ENST00000495234.5:c.*1683T>C	ENSP00000435274.1:n.*1683T>C
NM_139025.4:c.2851T>C , LRG_544t1:c.2851T>C	NP_620594.1:p.Cys951Arg
NM_139026.4:c.2758T>C	NP_620595.1:p.Cys920Arg
NM_139027.4:c.2851T>C	NP_620596.2:p.Cys951Arg
NR_024514.2:n.1686T>C
XM_011518174.1:c.2461T>C	XP_011516476.1:p.Cys821Arg
XM_011518175.1:c.2851T>C	XP_011516477.1:p.Cys951Arg
XM_011518176.1:c.1867T>C	XP_011516478.1:p.Cys623Arg
XM_011518177.1:c.1861T>C	XP_011516479.1:p.Cys621Arg
XM_011518178.1:c.1516T>C	XP_011516480.1:p.Cys506Arg
XM_011518179.1:c.1516T>C	XP_011516481.1:p.Cys506Arg
XM_011518180.1:c.1117T>C	XP_011516482.1:p.Cys373Arg
XM_011518176.3:c.1867T>C	XP_011516478.1:p.Cys623Arg
XM_011518178.2:c.1516T>C	XP_011516480.1:p.Cys506Arg
XM_017014232.1:c.2839T>C	XP_016869721.1:p.Cys947Arg
XM_017014233.1:c.2461T>C	XP_016869722.1:p.Cys821Arg
XM_017014234.2:c.1861T>C	XP_016869723.1:p.Cys621Arg
XR_001746171.1:n.3624T>C
NM_139026.5:c.2758T>C	NP_620595.1:p.Cys920Arg
NM_139027.5:c.2851T>C	NP_620596.2:p.Cys951Arg
NM_139025.5:c.2851T>C	NP_620594.1:p.Cys951Arg
NM_139026.6:c.2758T>C	NP_620595.1:p.Cys920Arg
NM_139027.6:c.2851T>C MANE Select	NP_620596.2:p.Cys951Arg
NR_024514.3:n.1688T>C