Canonical Allele Identifier: CA645372491

Gene: ADAMTS13

Linked Data

• PubMed: PMID:12181489

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.[133436862C>G;133437836G>A] , CM000671.2:g.[133436862C>G;133437836G>A]	GRCh38
NC_000009.10:g.[135291803C>G;135292777G>A]	NCBI36
NG_011934.2:g.[27524C>G;28498G>A] , LRG_544:g.[27524C>G;28498G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.[1342C>G;1523G>A] MANE Select	ENSP00000347927.2:p.[Gln448Glu;Cys508Tyr]
ENST00000355699.6:c.[1342C>G;1523G>A]	ENSP00000347927.2:p.[Gln448Glu;Cys508Tyr]
ENST00000356589.6:c.[1249C>G;1430G>A]	ENSP00000348997.2:p.[Gln417Glu;Cys477Tyr]
ENST00000371916.5:c.[598C>G;779G>A]	ENSP00000360984.2:p.[Gln200Glu;Cys260Tyr]
ENST00000371929.7:c.[1342C>G;1523G>A]	ENSP00000360997.3:p.[Gln448Glu;Cys508Tyr]
ENST00000474918.1:c.[*146C>G;*327G>A]	ENSP00000435305.1:n.[*146C>G;*327G>A]
ENST00000485925.5:n.[974-2504C>G;974-1530G>A]
ENST00000495234.5:c.[*626C>G;*807G>A]	ENSP00000435274.1:n.[*626C>G;*807G>A]
NM_139025.4:c.[1342C>G;1523G>A] , LRG_544t1:c.[1342C>G;1523G>A]	NP_620594.1:p.[Gln448Glu;Cys508Tyr]
NM_139026.4:c.[1249C>G;1430G>A]	NP_620595.1:p.[Gln417Glu;Cys477Tyr]
NM_139027.4:c.[1342C>G;1523G>A]	NP_620596.2:p.[Gln448Glu;Cys508Tyr]
NR_024514.2:n.[993-2504C>G;993-1530G>A]
XM_011518174.1:c.[952C>G;1133G>A]	XP_011516476.1:p.[Gln318Glu;Cys378Tyr]
XM_011518175.1:c.[1342C>G;1523G>A]	XP_011516477.1:p.[Gln448Glu;Cys508Tyr]
XM_011518176.1:c.[358C>G;539G>A]	XP_011516478.1:p.[Gln120Glu;Cys180Tyr]
XM_011518177.1:c.[352C>G;533G>A]	XP_011516479.1:p.[Gln118Glu;Cys178Tyr]
XM_011518178.1:c.[7C>G;188G>A]	XP_011516480.1:p.[Gln3Glu;Cys63Tyr]
XM_011518179.1:c.[128C>G;309G>A]	XP_011516481.1:p.[Ala43Gly;Val103=]
XM_011518180.1:c.[687-8001C>G;687-7027G>A]	XP_011516482.1:n.[687-8001C>G;687-7027G>A]
XM_011518176.3:c.[358C>G;539G>A]	XP_011516478.1:p.[Gln120Glu;Cys180Tyr]
XM_011518178.2:c.[7C>G;188G>A]	XP_011516480.1:p.[Gln3Glu;Cys63Tyr]
XM_017014232.1:c.[1330C>G;1511G>A]	XP_016869721.1:p.[Gln444Glu;Cys504Tyr]
XM_017014233.1:c.[952C>G;1133G>A]	XP_016869722.1:p.[Gln318Glu;Cys378Tyr]
XM_017014234.2:c.[352C>G;533G>A]	XP_016869723.1:p.[Gln118Glu;Cys178Tyr]
XM_017014235.1:c.[1342C>G;1523G>A]	XP_016869724.1:p.[Gln448Glu;Cys508Tyr]
XR_001746171.1:n.[2567C>G;2748G>A]
NM_139026.5:c.[1249C>G;1430G>A]	NP_620595.1:p.[Gln417Glu;Cys477Tyr]
NM_139027.5:c.[1342C>G;1523G>A]	NP_620596.2:p.[Gln448Glu;Cys508Tyr]
NM_139025.5:c.[1342C>G;1523G>A]	NP_620594.1:p.[Gln448Glu;Cys508Tyr]
NM_139026.6:c.[1249C>G;1430G>A]	NP_620595.1:p.[Gln417Glu;Cys477Tyr]
NM_139027.6:c.[1342C>G;1523G>A] MANE Select	NP_620596.2:p.[Gln448Glu;Cys508Tyr]
NR_024514.3:n.[995-2504C>G;995-1530G>A]