Canonical Allele Identifier: CA375410472

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454515G>C , CM000671.2:g.133454515G>C	GRCh38
NC_000009.10:g.135309458G>C	NCBI36
NG_011934.2:g.45177G>C , LRG_544:g.45177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3145G>C MANE Select	ENSP00000347927.2:p.Glu1049Gln
ENST00000355699.6:c.3145G>C	ENSP00000347927.2:p.Glu1049Gln
ENST00000356589.6:c.3052G>C	ENSP00000348997.2:p.Glu1018Gln
ENST00000371916.5:c.*614G>C	ENSP00000360984.2:n.*614G>C
ENST00000371929.7:c.3145G>C	ENSP00000360997.3:p.Glu1049Gln
ENST00000485925.5:n.1961G>C
NM_139025.4:c.3145G>C , LRG_544t1:c.3145G>C	NP_620594.1:p.Glu1049Gln
NM_139026.4:c.3052G>C	NP_620595.1:p.Glu1018Gln
NM_139027.4:c.3145G>C	NP_620596.2:p.Glu1049Gln
NR_024514.2:n.1980G>C
XM_011518174.1:c.2755G>C	XP_011516476.1:p.Glu919Gln
XM_011518175.1:c.3145G>C	XP_011516477.1:p.Glu1049Gln
XM_011518176.1:c.2161G>C	XP_011516478.1:p.Glu721Gln
XM_011518177.1:c.2155G>C	XP_011516479.1:p.Glu719Gln
XM_011518178.1:c.1810G>C	XP_011516480.1:p.Glu604Gln
XM_011518179.1:c.1810G>C	XP_011516481.1:p.Glu604Gln
XM_011518180.1:c.1411G>C	XP_011516482.1:p.Glu471Gln
XM_011518176.3:c.2161G>C	XP_011516478.1:p.Glu721Gln
XM_011518178.2:c.1810G>C	XP_011516480.1:p.Glu604Gln
XM_017014232.1:c.3133G>C	XP_016869721.1:p.Glu1045Gln
XM_017014233.1:c.2755G>C	XP_016869722.1:p.Glu919Gln
XM_017014234.2:c.2155G>C	XP_016869723.1:p.Glu719Gln
NM_139026.5:c.3052G>C	NP_620595.1:p.Glu1018Gln
NM_139027.5:c.3145G>C	NP_620596.2:p.Glu1049Gln
NM_139025.5:c.3145G>C	NP_620594.1:p.Glu1049Gln
NM_139026.6:c.3052G>C	NP_620595.1:p.Glu1018Gln
NM_139027.6:c.3145G>C MANE Select	NP_620596.2:p.Glu1049Gln
NR_024514.3:n.1982G>C