Canonical Allele Identifier: CA375410326

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454498A>C , CM000671.2:g.133454498A>C	GRCh38
NC_000009.10:g.135309441A>C	NCBI36
NG_011934.2:g.45160A>C , LRG_544:g.45160A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3128A>C MANE Select	ENSP00000347927.2:p.Asp1043Ala
ENST00000355699.6:c.3128A>C	ENSP00000347927.2:p.Asp1043Ala
ENST00000356589.6:c.3035A>C	ENSP00000348997.2:p.Asp1012Ala
ENST00000371916.5:c.*597A>C	ENSP00000360984.2:n.*597A>C
ENST00000371929.7:c.3128A>C	ENSP00000360997.3:p.Asp1043Ala
ENST00000485925.5:n.1944A>C
NM_139025.4:c.3128A>C , LRG_544t1:c.3128A>C	NP_620594.1:p.Asp1043Ala
NM_139026.4:c.3035A>C	NP_620595.1:p.Asp1012Ala
NM_139027.4:c.3128A>C	NP_620596.2:p.Asp1043Ala
NR_024514.2:n.1963A>C
XM_011518174.1:c.2738A>C	XP_011516476.1:p.Asp913Ala
XM_011518175.1:c.3128A>C	XP_011516477.1:p.Asp1043Ala
XM_011518176.1:c.2144A>C	XP_011516478.1:p.Asp715Ala
XM_011518177.1:c.2138A>C	XP_011516479.1:p.Asp713Ala
XM_011518178.1:c.1793A>C	XP_011516480.1:p.Asp598Ala
XM_011518179.1:c.1793A>C	XP_011516481.1:p.Asp598Ala
XM_011518180.1:c.1394A>C	XP_011516482.1:p.Asp465Ala
XM_011518176.3:c.2144A>C	XP_011516478.1:p.Asp715Ala
XM_011518178.2:c.1793A>C	XP_011516480.1:p.Asp598Ala
XM_017014232.1:c.3116A>C	XP_016869721.1:p.Asp1039Ala
XM_017014233.1:c.2738A>C	XP_016869722.1:p.Asp913Ala
XM_017014234.2:c.2138A>C	XP_016869723.1:p.Asp713Ala
NM_139026.5:c.3035A>C	NP_620595.1:p.Asp1012Ala
NM_139027.5:c.3128A>C	NP_620596.2:p.Asp1043Ala
NM_139025.5:c.3128A>C	NP_620594.1:p.Asp1043Ala
NM_139026.6:c.3035A>C	NP_620595.1:p.Asp1012Ala
NM_139027.6:c.3128A>C MANE Select	NP_620596.2:p.Asp1043Ala
NR_024514.3:n.1965A>C