Canonical Allele Identifier: CA375404526

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133448707-A-G
• MyVariant Identifiers: chr9:g.133448707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448707A>G , CM000671.2:g.133448707A>G	GRCh38
NC_000009.10:g.135303649A>G	NCBI36
NG_011934.2:g.39369A>G , LRG_544:g.39369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2840A>G MANE Select	ENSP00000347927.2:p.Gln947Arg
ENST00000355699.6:c.2840A>G	ENSP00000347927.2:p.Gln947Arg
ENST00000356589.6:c.2747A>G	ENSP00000348997.2:p.Gln916Arg
ENST00000371916.5:c.*309A>G	ENSP00000360984.2:n.*309A>G
ENST00000371929.7:c.2840A>G	ENSP00000360997.3:p.Gln947Arg
ENST00000485925.5:n.1656A>G
ENST00000495234.5:c.*1672A>G	ENSP00000435274.1:n.*1672A>G
NM_139025.4:c.2840A>G , LRG_544t1:c.2840A>G	NP_620594.1:p.Gln947Arg
NM_139026.4:c.2747A>G	NP_620595.1:p.Gln916Arg
NM_139027.4:c.2840A>G	NP_620596.2:p.Gln947Arg
NR_024514.2:n.1675A>G
XM_011518174.1:c.2450A>G	XP_011516476.1:p.Gln817Arg
XM_011518175.1:c.2840A>G	XP_011516477.1:p.Gln947Arg
XM_011518176.1:c.1856A>G	XP_011516478.1:p.Gln619Arg
XM_011518177.1:c.1850A>G	XP_011516479.1:p.Gln617Arg
XM_011518178.1:c.1505A>G	XP_011516480.1:p.Gln502Arg
XM_011518179.1:c.1505A>G	XP_011516481.1:p.Gln502Arg
XM_011518180.1:c.1106A>G	XP_011516482.1:p.Gln369Arg
XM_011518176.3:c.1856A>G	XP_011516478.1:p.Gln619Arg
XM_011518178.2:c.1505A>G	XP_011516480.1:p.Gln502Arg
XM_017014232.1:c.2828A>G	XP_016869721.1:p.Gln943Arg
XM_017014233.1:c.2450A>G	XP_016869722.1:p.Gln817Arg
XM_017014234.2:c.1850A>G	XP_016869723.1:p.Gln617Arg
XR_001746171.1:n.3613A>G
NM_139026.5:c.2747A>G	NP_620595.1:p.Gln916Arg
NM_139027.5:c.2840A>G	NP_620596.2:p.Gln947Arg
NM_139025.5:c.2840A>G	NP_620594.1:p.Gln947Arg
NM_139026.6:c.2747A>G	NP_620595.1:p.Gln916Arg
NM_139027.6:c.2840A>G MANE Select	NP_620596.2:p.Gln947Arg
NR_024514.3:n.1677A>G