Canonical Allele Identifier: CA375391678

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436893-T-A
• MyVariant Identifiers: chr9:g.133436893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436893T>A , CM000671.2:g.133436893T>A	GRCh38
NC_000009.10:g.135291834T>A	NCBI36
NG_011934.2:g.27555T>A , LRG_544:g.27555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1373T>A MANE Select	ENSP00000347927.2:p.Leu458Gln
ENST00000355699.6:c.1373T>A	ENSP00000347927.2:p.Leu458Gln
ENST00000356589.6:c.1280T>A	ENSP00000348997.2:p.Leu427Gln
ENST00000371916.5:c.629T>A	ENSP00000360984.2:p.Leu210Gln
ENST00000371929.7:c.1373T>A	ENSP00000360997.3:p.Leu458Gln
ENST00000474918.1:c.*177T>A	ENSP00000435305.1:n.*177T>A
ENST00000485925.5:n.974-2473T>A
ENST00000495234.5:c.*657T>A	ENSP00000435274.1:n.*657T>A
NM_139025.4:c.1373T>A , LRG_544t1:c.1373T>A	NP_620594.1:p.Leu458Gln
NM_139026.4:c.1280T>A	NP_620595.1:p.Leu427Gln
NM_139027.4:c.1373T>A	NP_620596.2:p.Leu458Gln
NR_024514.2:n.993-2473T>A
XM_011518174.1:c.983T>A	XP_011516476.1:p.Leu328Gln
XM_011518175.1:c.1373T>A	XP_011516477.1:p.Leu458Gln
XM_011518176.1:c.389T>A	XP_011516478.1:p.Leu130Gln
XM_011518177.1:c.383T>A	XP_011516479.1:p.Leu128Gln
XM_011518178.1:c.38T>A	XP_011516480.1:p.Leu13Gln
XM_011518179.1:c.159T>A	XP_011516481.1:p.Ala53=
XM_011518180.1:c.687-7970T>A	XP_011516482.1:n.687-7970T>A
XM_011518176.3:c.389T>A	XP_011516478.1:p.Leu130Gln
XM_011518178.2:c.38T>A	XP_011516480.1:p.Leu13Gln
XM_017014232.1:c.1361T>A	XP_016869721.1:p.Leu454Gln
XM_017014233.1:c.983T>A	XP_016869722.1:p.Leu328Gln
XM_017014234.2:c.383T>A	XP_016869723.1:p.Leu128Gln
XM_017014235.1:c.1373T>A	XP_016869724.1:p.Leu458Gln
XR_001746171.1:n.2598T>A
NM_139026.5:c.1280T>A	NP_620595.1:p.Leu427Gln
NM_139027.5:c.1373T>A	NP_620596.2:p.Leu458Gln
NM_139025.5:c.1373T>A	NP_620594.1:p.Leu458Gln
NM_139026.6:c.1280T>A	NP_620595.1:p.Leu427Gln
NM_139027.6:c.1373T>A MANE Select	NP_620596.2:p.Leu458Gln
NR_024514.3:n.995-2473T>A