Canonical Allele Identifier: CA375391450

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 2324724
• ClinVar RCV Id: RCV002911754
• dbSNP Id: rs1554789145
• gnomAD v4: 9-133436840-G-T
• MyVariant Identifiers: chr9:g.133436840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436840G>T , CM000671.2:g.133436840G>T	GRCh38
NC_000009.10:g.135291781G>T	NCBI36
NG_011934.2:g.27502G>T , LRG_544:g.27502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1320G>T MANE Select	ENSP00000347927.2:p.Lys440Asn
ENST00000355699.6:c.1320G>T	ENSP00000347927.2:p.Lys440Asn
ENST00000356589.6:c.1227G>T	ENSP00000348997.2:p.Lys409Asn
ENST00000371916.5:c.576G>T	ENSP00000360984.2:p.Lys192Asn
ENST00000371929.7:c.1320G>T	ENSP00000360997.3:p.Lys440Asn
ENST00000474918.1:c.*124G>T	ENSP00000435305.1:n.*124G>T
ENST00000485925.5:n.974-2526G>T
ENST00000495234.5:c.*604G>T	ENSP00000435274.1:n.*604G>T
NM_139025.4:c.1320G>T , LRG_544t1:c.1320G>T	NP_620594.1:p.Lys440Asn
NM_139026.4:c.1227G>T	NP_620595.1:p.Lys409Asn
NM_139027.4:c.1320G>T	NP_620596.2:p.Lys440Asn
NR_024514.2:n.993-2526G>T
XM_011518174.1:c.930G>T	XP_011516476.1:p.Lys310Asn
XM_011518175.1:c.1320G>T	XP_011516477.1:p.Lys440Asn
XM_011518176.1:c.336G>T	XP_011516478.1:p.Lys112Asn
XM_011518177.1:c.330G>T	XP_011516479.1:p.Lys110Asn
XM_011518178.1:c.-16G>T	XP_011516480.1:n.-16G>T
XM_011518179.1:c.106G>T	XP_011516481.1:p.Asp36Tyr
XM_011518180.1:c.687-8023G>T	XP_011516482.1:n.687-8023G>T
XM_011518176.3:c.336G>T	XP_011516478.1:p.Lys112Asn
XM_011518178.2:c.-16G>T	XP_011516480.1:n.-16G>T
XM_017014232.1:c.1308G>T	XP_016869721.1:p.Lys436Asn
XM_017014233.1:c.930G>T	XP_016869722.1:p.Lys310Asn
XM_017014234.2:c.330G>T	XP_016869723.1:p.Lys110Asn
XM_017014235.1:c.1320G>T	XP_016869724.1:p.Lys440Asn
XR_001746171.1:n.2545G>T
NM_139026.5:c.1227G>T	NP_620595.1:p.Lys409Asn
NM_139027.5:c.1320G>T	NP_620596.2:p.Lys440Asn
NM_139025.5:c.1320G>T	NP_620594.1:p.Lys440Asn
NM_139026.6:c.1227G>T	NP_620595.1:p.Lys409Asn
NM_139027.6:c.1320G>T MANE Select	NP_620596.2:p.Lys440Asn
NR_024514.3:n.995-2526G>T