Canonical Allele Identifier: CA375414851

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456098A>C , CM000671.2:g.133456098A>C	GRCh38
NC_000009.10:g.135311041A>C	NCBI36
NG_011934.2:g.46760A>C , LRG_544:g.46760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3430A>C MANE Select	ENSP00000347927.2:p.Thr1144Pro
ENST00000355699.6:c.3430A>C	ENSP00000347927.2:p.Thr1144Pro
ENST00000356589.6:c.3337A>C	ENSP00000348997.2:p.Thr1113Pro
ENST00000371910.1:c.-15A>C	ENSP00000360978.1:n.-15A>C
ENST00000371916.5:c.*899A>C	ENSP00000360984.2:n.*899A>C
ENST00000371929.7:c.3598A>C	ENSP00000360997.3:p.Thr1200Pro
ENST00000485925.5:n.2246A>C
NM_139025.4:c.3598A>C , LRG_544t1:c.3598A>C	NP_620594.1:p.Thr1200Pro
NM_139026.4:c.3337A>C	NP_620595.1:p.Thr1113Pro
NM_139027.4:c.3430A>C	NP_620596.2:p.Thr1144Pro
NR_024514.2:n.2265A>C
XM_011518174.1:c.3208A>C	XP_011516476.1:p.Thr1070Pro
XM_011518175.1:c.*5A>C	XP_011516477.1:n.*5A>C
XM_011518176.1:c.2614A>C	XP_011516478.1:p.Thr872Pro
XM_011518177.1:c.2608A>C	XP_011516479.1:p.Thr870Pro
XM_011518178.1:c.2263A>C	XP_011516480.1:p.Thr755Pro
XM_011518179.1:c.2263A>C	XP_011516481.1:p.Thr755Pro
XM_011518180.1:c.1864A>C	XP_011516482.1:p.Thr622Pro
XM_011518176.3:c.2614A>C	XP_011516478.1:p.Thr872Pro
XM_011518178.2:c.2263A>C	XP_011516480.1:p.Thr755Pro
XM_017014232.1:c.3586A>C	XP_016869721.1:p.Thr1196Pro
XM_017014233.1:c.3208A>C	XP_016869722.1:p.Thr1070Pro
XM_017014234.2:c.2608A>C	XP_016869723.1:p.Thr870Pro
NM_139026.5:c.3337A>C	NP_620595.1:p.Thr1113Pro
NM_139027.5:c.3430A>C	NP_620596.2:p.Thr1144Pro
NM_139025.5:c.3598A>C	NP_620594.1:p.Thr1200Pro
NM_139026.6:c.3337A>C	NP_620595.1:p.Thr1113Pro
NM_139027.6:c.3430A>C MANE Select	NP_620596.2:p.Thr1144Pro
NR_024514.3:n.2267A>C