Canonical Allele Identifier: CA200929631

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs782076268
• gnomAD v4: 9-133436880-G-C
• MyVariant Identifiers: chr9:g.133436880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436880G>C , CM000671.2:g.133436880G>C	GRCh38
NC_000009.10:g.135291821G>C	NCBI36
NG_011934.2:g.27542G>C , LRG_544:g.27542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1360G>C MANE Select	ENSP00000347927.2:p.Asp454His
ENST00000355699.6:c.1360G>C	ENSP00000347927.2:p.Asp454His
ENST00000356589.6:c.1267G>C	ENSP00000348997.2:p.Asp423His
ENST00000371916.5:c.616G>C	ENSP00000360984.2:p.Asp206His
ENST00000371929.7:c.1360G>C	ENSP00000360997.3:p.Asp454His
ENST00000474918.1:c.*164G>C	ENSP00000435305.1:n.*164G>C
ENST00000485925.5:n.974-2486G>C
ENST00000495234.5:c.*644G>C	ENSP00000435274.1:n.*644G>C
NM_139025.4:c.1360G>C , LRG_544t1:c.1360G>C	NP_620594.1:p.Asp454His
NM_139026.4:c.1267G>C	NP_620595.1:p.Asp423His
NM_139027.4:c.1360G>C	NP_620596.2:p.Asp454His
NR_024514.2:n.993-2486G>C
XM_011518174.1:c.970G>C	XP_011516476.1:p.Asp324His
XM_011518175.1:c.1360G>C	XP_011516477.1:p.Asp454His
XM_011518176.1:c.376G>C	XP_011516478.1:p.Asp126His
XM_011518177.1:c.370G>C	XP_011516479.1:p.Asp124His
XM_011518178.1:c.25G>C	XP_011516480.1:p.Asp9His
XM_011518179.1:c.146G>C	XP_011516481.1:p.Arg49Pro
XM_011518180.1:c.687-7983G>C	XP_011516482.1:n.687-7983G>C
XM_011518176.3:c.376G>C	XP_011516478.1:p.Asp126His
XM_011518178.2:c.25G>C	XP_011516480.1:p.Asp9His
XM_017014232.1:c.1348G>C	XP_016869721.1:p.Asp450His
XM_017014233.1:c.970G>C	XP_016869722.1:p.Asp324His
XM_017014234.2:c.370G>C	XP_016869723.1:p.Asp124His
XM_017014235.1:c.1360G>C	XP_016869724.1:p.Asp454His
XR_001746171.1:n.2585G>C
NM_139026.5:c.1267G>C	NP_620595.1:p.Asp423His
NM_139027.5:c.1360G>C	NP_620596.2:p.Asp454His
NM_139025.5:c.1360G>C	NP_620594.1:p.Asp454His
NM_139026.6:c.1267G>C	NP_620595.1:p.Asp423His
NM_139027.6:c.1360G>C MANE Select	NP_620596.2:p.Asp454His
NR_024514.3:n.995-2486G>C