Canonical Allele Identifier: CA375397834

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133443522T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443522T>G , CM000671.2:g.133443522T>G	GRCh38
NC_000009.10:g.135298464T>G	NCBI36
NG_011934.2:g.34184T>G , LRG_544:g.34184T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2381T>G MANE Select	ENSP00000347927.2:p.Val794Gly
ENST00000355699.6:c.2381T>G	ENSP00000347927.2:p.Val794Gly
ENST00000356589.6:c.2288T>G	ENSP00000348997.2:p.Val763Gly
ENST00000371916.5:c.1225-1341T>G	ENSP00000360984.2:n.1225-1341T>G
ENST00000371929.7:c.2381T>G	ENSP00000360997.3:p.Val794Gly
ENST00000474918.1:c.*919T>G	ENSP00000435305.1:n.*919T>G
ENST00000485925.5:n.1237-1341T>G
ENST00000495234.5:c.*1253-1341T>G	ENSP00000435274.1:n.*1253-1341T>G
NM_139025.4:c.2381T>G , LRG_544t1:c.2381T>G	NP_620594.1:p.Val794Gly
NM_139026.4:c.2288T>G	NP_620595.1:p.Val763Gly
NM_139027.4:c.2381T>G	NP_620596.2:p.Val794Gly
NR_024514.2:n.1256-1341T>G
XM_011518174.1:c.1991T>G	XP_011516476.1:p.Val664Gly
XM_011518175.1:c.2381T>G	XP_011516477.1:p.Val794Gly
XM_011518176.1:c.1397T>G	XP_011516478.1:p.Val466Gly
XM_011518177.1:c.1391T>G	XP_011516479.1:p.Val464Gly
XM_011518178.1:c.1046T>G	XP_011516480.1:p.Val349Gly
XM_011518179.1:c.1046T>G	XP_011516481.1:p.Val349Gly
XM_011518180.1:c.687-1341T>G	XP_011516482.1:n.687-1341T>G
XM_011518176.3:c.1397T>G	XP_011516478.1:p.Val466Gly
XM_011518178.2:c.1046T>G	XP_011516480.1:p.Val349Gly
XM_017014232.1:c.2369T>G	XP_016869721.1:p.Val790Gly
XM_017014233.1:c.1991T>G	XP_016869722.1:p.Val664Gly
XM_017014234.2:c.1391T>G	XP_016869723.1:p.Val464Gly
XM_017014235.1:c.2234+779T>G	XP_016869724.1:n.2234+779T>G
XR_001746171.1:n.3194-1341T>G
NM_139026.5:c.2288T>G	NP_620595.1:p.Val763Gly
NM_139027.5:c.2381T>G	NP_620596.2:p.Val794Gly
NM_139025.5:c.2381T>G	NP_620594.1:p.Val794Gly
NM_139026.6:c.2288T>G	NP_620595.1:p.Val763Gly
NM_139027.6:c.2381T>G MANE Select	NP_620596.2:p.Val794Gly
NR_024514.3:n.1258-1341T>G