Canonical Allele Identifier: CA375410171

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454459T>A , CM000671.2:g.133454459T>A	GRCh38
NC_000009.10:g.135309402T>A	NCBI36
NG_011934.2:g.45121T>A , LRG_544:g.45121T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3089T>A MANE Select	ENSP00000347927.2:p.Leu1030His
ENST00000355699.6:c.3089T>A	ENSP00000347927.2:p.Leu1030His
ENST00000356589.6:c.2996T>A	ENSP00000348997.2:p.Leu999His
ENST00000371916.5:c.*558T>A	ENSP00000360984.2:n.*558T>A
ENST00000371929.7:c.3089T>A	ENSP00000360997.3:p.Leu1030His
ENST00000485925.5:n.1905T>A
NM_139025.4:c.3089T>A , LRG_544t1:c.3089T>A	NP_620594.1:p.Leu1030His
NM_139026.4:c.2996T>A	NP_620595.1:p.Leu999His
NM_139027.4:c.3089T>A	NP_620596.2:p.Leu1030His
NR_024514.2:n.1924T>A
XM_011518174.1:c.2699T>A	XP_011516476.1:p.Leu900His
XM_011518175.1:c.3089T>A	XP_011516477.1:p.Leu1030His
XM_011518176.1:c.2105T>A	XP_011516478.1:p.Leu702His
XM_011518177.1:c.2099T>A	XP_011516479.1:p.Leu700His
XM_011518178.1:c.1754T>A	XP_011516480.1:p.Leu585His
XM_011518179.1:c.1754T>A	XP_011516481.1:p.Leu585His
XM_011518180.1:c.1355T>A	XP_011516482.1:p.Leu452His
XM_011518176.3:c.2105T>A	XP_011516478.1:p.Leu702His
XM_011518178.2:c.1754T>A	XP_011516480.1:p.Leu585His
XM_017014232.1:c.3077T>A	XP_016869721.1:p.Leu1026His
XM_017014233.1:c.2699T>A	XP_016869722.1:p.Leu900His
XM_017014234.2:c.2099T>A	XP_016869723.1:p.Leu700His
XR_001746171.1:n.3862T>A
NM_139026.5:c.2996T>A	NP_620595.1:p.Leu999His
NM_139027.5:c.3089T>A	NP_620596.2:p.Leu1030His
NM_139025.5:c.3089T>A	NP_620594.1:p.Leu1030His
NM_139026.6:c.2996T>A	NP_620595.1:p.Leu999His
NM_139027.6:c.3089T>A MANE Select	NP_620596.2:p.Leu1030His
NR_024514.3:n.1926T>A