Canonical Allele Identifier: CA1882673641

Gene: ADAMTS13

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437895A>C , CM000671.2:g.133437895A>C	GRCh38
NC_000009.10:g.135292836A>C	NCBI36
NG_011934.2:g.28557A>C , LRG_544:g.28557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1582A>C MANE Select	ENSP00000347927.2:p.Arg528=
ENST00000355699.6:c.1582A>C	ENSP00000347927.2:p.Arg528=
ENST00000356589.6:c.1489A>C	ENSP00000348997.2:p.Arg497=
ENST00000371916.5:c.838A>C	ENSP00000360984.2:p.Arg280=
ENST00000371929.7:c.1582A>C	ENSP00000360997.3:p.Arg528=
ENST00000474918.1:c.*386A>C	ENSP00000435305.1:n.*386A>C
ENST00000485925.5:n.974-1471A>C
ENST00000495234.5:c.*866A>C	ENSP00000435274.1:n.*866A>C
NM_139025.4:c.1582A>C , LRG_544t1:c.1582A>C	NP_620594.1:p.Arg528=
NM_139026.4:c.1489A>C	NP_620595.1:p.Arg497=
NM_139027.4:c.1582A>C	NP_620596.2:p.Arg528=
NR_024514.2:n.993-1471A>C
XM_011518174.1:c.1192A>C	XP_011516476.1:p.Arg398=
XM_011518175.1:c.1582A>C	XP_011516477.1:p.Arg528=
XM_011518176.1:c.598A>C	XP_011516478.1:p.Arg200=
XM_011518177.1:c.592A>C	XP_011516479.1:p.Arg198=
XM_011518178.1:c.247A>C	XP_011516480.1:p.Arg83=
XM_011518179.1:c.368A>C	XP_011516481.1:p.Gln123Pro
XM_011518180.1:c.687-6968A>C	XP_011516482.1:n.687-6968A>C
XM_011518176.3:c.598A>C	XP_011516478.1:p.Arg200=
XM_011518178.2:c.247A>C	XP_011516480.1:p.Arg83=
XM_017014232.1:c.1570A>C	XP_016869721.1:p.Arg524=
XM_017014233.1:c.1192A>C	XP_016869722.1:p.Arg398=
XM_017014234.2:c.592A>C	XP_016869723.1:p.Arg198=
XM_017014235.1:c.1582A>C	XP_016869724.1:p.Arg528=
XR_001746171.1:n.2807A>C
NM_139026.5:c.1489A>C	NP_620595.1:p.Arg497=
NM_139027.5:c.1582A>C	NP_620596.2:p.Arg528=
NM_139025.5:c.1582A>C	NP_620594.1:p.Arg528=
NM_139026.6:c.1489A>C	NP_620595.1:p.Arg497=
NM_139027.6:c.1582A>C MANE Select	NP_620596.2:p.Arg528=
NR_024514.3:n.995-1471A>C