Canonical Allele Identifier: CA1129740864

Gene: ADAMTS13

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133433609C>T , CM000671.2:g.133433609C>T	GRCh38
NG_011934.2:g.24271C>T , LRG_544:g.24271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1245-32C>T MANE Select	ENSP00000347927.2:n.1245-32C>T
ENST00000355699.6:c.1245-32C>T	ENSP00000347927.2:n.1245-32C>T
ENST00000356589.6:c.1152-32C>T	ENSP00000348997.2:n.1152-32C>T
ENST00000371916.5:c.501-32C>T	ENSP00000360984.2:n.501-32C>T
ENST00000371929.7:c.1245-32C>T	ENSP00000360997.3:n.1245-32C>T
ENST00000474918.1:c.*112+80C>T	ENSP00000435305.1:n.*112+80C>T
ENST00000485925.5:n.973+917C>T
ENST00000495234.5:c.*529-32C>T	ENSP00000435274.1:n.*529-32C>T
NM_139025.4:c.1245-32C>T , LRG_544t1:c.1245-32C>T	NP_620594.1:n.1245-32C>T
NM_139026.4:c.1152-32C>T	NP_620595.1:n.1152-32C>T
NM_139027.4:c.1245-32C>T	NP_620596.2:n.1245-32C>T
NR_024514.2:n.992+917C>T
XM_011518174.1:c.855-32C>T	XP_011516476.1:n.855-32C>T
XM_011518175.1:c.1245-32C>T	XP_011516477.1:n.1245-32C>T
XM_011518176.1:c.261-32C>T	XP_011516478.1:n.261-32C>T
XM_011518177.1:c.255-32C>T	XP_011516479.1:n.255-32C>T
XM_011518178.1:c.-28+80C>T	XP_011516480.1:n.-28+80C>T
XM_011518179.1:c.94+80C>T	XP_011516481.1:n.94+80C>T
XM_011518180.1:c.686+7264C>T	XP_011516482.1:n.686+7264C>T
XM_011518176.3:c.261-32C>T	XP_011516478.1:n.261-32C>T
XM_011518178.2:c.-28+80C>T	XP_011516480.1:n.-28+80C>T
XM_017014232.1:c.1233-32C>T	XP_016869721.1:n.1233-32C>T
XM_017014233.1:c.855-32C>T	XP_016869722.1:n.855-32C>T
XM_017014234.2:c.255-32C>T	XP_016869723.1:n.255-32C>T
XM_017014235.1:c.1245-32C>T	XP_016869724.1:n.1245-32C>T
XR_001746171.1:n.2470-32C>T
NM_139026.5:c.1152-32C>T	NP_620595.1:n.1152-32C>T
NM_139027.5:c.1245-32C>T	NP_620596.2:n.1245-32C>T
NM_139025.5:c.1245-32C>T	NP_620594.1:n.1245-32C>T
NM_139026.6:c.1152-32C>T	NP_620595.1:n.1152-32C>T
NM_139027.6:c.1245-32C>T MANE Select	NP_620596.2:n.1245-32C>T
NR_024514.3:n.994+917C>T