Canonical Allele Identifier: CA10632751

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 365544
• ClinVar RCV Id: RCV000388478
• dbSNP Id: rs587602874
• gnomAD v3: 9-133436861-G-A
• gnomAD v4: 9-133436861-G-A
• MyVariant Identifiers: chr9:g.133436861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436861G>A , CM000671.2:g.133436861G>A	GRCh38
NC_000009.10:g.135291802G>A	NCBI36
NG_011934.2:g.27523G>A , LRG_544:g.27523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1341G>A MANE Select	ENSP00000347927.2:p.Ser447=
ENST00000355699.6:c.1341G>A	ENSP00000347927.2:p.Ser447=
ENST00000356589.6:c.1248G>A	ENSP00000348997.2:p.Ser416=
ENST00000371916.5:c.597G>A	ENSP00000360984.2:p.Ser199=
ENST00000371929.7:c.1341G>A	ENSP00000360997.3:p.Ser447=
ENST00000474918.1:c.*145G>A	ENSP00000435305.1:n.*145G>A
ENST00000485925.5:n.974-2505G>A
ENST00000495234.5:c.*625G>A	ENSP00000435274.1:n.*625G>A
NM_139025.4:c.1341G>A , LRG_544t1:c.1341G>A	NP_620594.1:p.Ser447=
NM_139026.4:c.1248G>A	NP_620595.1:p.Ser416=
NM_139027.4:c.1341G>A	NP_620596.2:p.Ser447=
NR_024514.2:n.993-2505G>A
XM_011518174.1:c.951G>A	XP_011516476.1:p.Ser317=
XM_011518175.1:c.1341G>A	XP_011516477.1:p.Ser447=
XM_011518176.1:c.357G>A	XP_011516478.1:p.Ser119=
XM_011518177.1:c.351G>A	XP_011516479.1:p.Ser117=
XM_011518178.1:c.6G>A	XP_011516480.1:p.Ser2=
XM_011518179.1:c.127G>A	XP_011516481.1:p.Ala43Thr
XM_011518180.1:c.687-8002G>A	XP_011516482.1:n.687-8002G>A
XM_011518176.3:c.357G>A	XP_011516478.1:p.Ser119=
XM_011518178.2:c.6G>A	XP_011516480.1:p.Ser2=
XM_017014232.1:c.1329G>A	XP_016869721.1:p.Ser443=
XM_017014233.1:c.951G>A	XP_016869722.1:p.Ser317=
XM_017014234.2:c.351G>A	XP_016869723.1:p.Ser117=
XM_017014235.1:c.1341G>A	XP_016869724.1:p.Ser447=
XR_001746171.1:n.2566G>A
NM_139026.5:c.1248G>A	NP_620595.1:p.Ser416=
NM_139027.5:c.1341G>A	NP_620596.2:p.Ser447=
NM_139025.5:c.1341G>A	NP_620594.1:p.Ser447=
NM_139026.6:c.1248G>A	NP_620595.1:p.Ser416=
NM_139027.6:c.1341G>A MANE Select	NP_620596.2:p.Ser447=
NR_024514.3:n.995-2505G>A