Canonical Allele Identifier: CA375410187

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454465C>A , CM000671.2:g.133454465C>A	GRCh38
NC_000009.10:g.135309408C>A	NCBI36
NG_011934.2:g.45127C>A , LRG_544:g.45127C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3095C>A MANE Select	ENSP00000347927.2:p.Thr1032Asn
ENST00000355699.6:c.3095C>A	ENSP00000347927.2:p.Thr1032Asn
ENST00000356589.6:c.3002C>A	ENSP00000348997.2:p.Thr1001Asn
ENST00000371916.5:c.*564C>A	ENSP00000360984.2:n.*564C>A
ENST00000371929.7:c.3095C>A	ENSP00000360997.3:p.Thr1032Asn
ENST00000485925.5:n.1911C>A
NM_139025.4:c.3095C>A , LRG_544t1:c.3095C>A	NP_620594.1:p.Thr1032Asn
NM_139026.4:c.3002C>A	NP_620595.1:p.Thr1001Asn
NM_139027.4:c.3095C>A	NP_620596.2:p.Thr1032Asn
NR_024514.2:n.1930C>A
XM_011518174.1:c.2705C>A	XP_011516476.1:p.Thr902Asn
XM_011518175.1:c.3095C>A	XP_011516477.1:p.Thr1032Asn
XM_011518176.1:c.2111C>A	XP_011516478.1:p.Thr704Asn
XM_011518177.1:c.2105C>A	XP_011516479.1:p.Thr702Asn
XM_011518178.1:c.1760C>A	XP_011516480.1:p.Thr587Asn
XM_011518179.1:c.1760C>A	XP_011516481.1:p.Thr587Asn
XM_011518180.1:c.1361C>A	XP_011516482.1:p.Thr454Asn
XM_011518176.3:c.2111C>A	XP_011516478.1:p.Thr704Asn
XM_011518178.2:c.1760C>A	XP_011516480.1:p.Thr587Asn
XM_017014232.1:c.3083C>A	XP_016869721.1:p.Thr1028Asn
XM_017014233.1:c.2705C>A	XP_016869722.1:p.Thr902Asn
XM_017014234.2:c.2105C>A	XP_016869723.1:p.Thr702Asn
XR_001746171.1:n.3868C>A
NM_139026.5:c.3002C>A	NP_620595.1:p.Thr1001Asn
NM_139027.5:c.3095C>A	NP_620596.2:p.Thr1032Asn
NM_139025.5:c.3095C>A	NP_620594.1:p.Thr1032Asn
NM_139026.6:c.3002C>A	NP_620595.1:p.Thr1001Asn
NM_139027.6:c.3095C>A MANE Select	NP_620596.2:p.Thr1032Asn
NR_024514.3:n.1932C>A