Canonical Allele Identifier: CA375391845

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436934G>C , CM000671.2:g.133436934G>C	GRCh38
NC_000009.10:g.135291875G>C	NCBI36
NG_011934.2:g.27596G>C , LRG_544:g.27596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1414G>C MANE Select	ENSP00000347927.2:p.Ala472Pro
ENST00000355699.6:c.1414G>C	ENSP00000347927.2:p.Ala472Pro
ENST00000356589.6:c.1321G>C	ENSP00000348997.2:p.Ala441Pro
ENST00000371916.5:c.670G>C	ENSP00000360984.2:p.Ala224Pro
ENST00000371929.7:c.1414G>C	ENSP00000360997.3:p.Ala472Pro
ENST00000474918.1:c.*218G>C	ENSP00000435305.1:n.*218G>C
ENST00000485925.5:n.974-2432G>C
ENST00000495234.5:c.*698G>C	ENSP00000435274.1:n.*698G>C
NM_139025.4:c.1414G>C , LRG_544t1:c.1414G>C	NP_620594.1:p.Ala472Pro
NM_139026.4:c.1321G>C	NP_620595.1:p.Ala441Pro
NM_139027.4:c.1414G>C	NP_620596.2:p.Ala472Pro
NR_024514.2:n.993-2432G>C
XM_011518174.1:c.1024G>C	XP_011516476.1:p.Ala342Pro
XM_011518175.1:c.1414G>C	XP_011516477.1:p.Ala472Pro
XM_011518176.1:c.430G>C	XP_011516478.1:p.Ala144Pro
XM_011518177.1:c.424G>C	XP_011516479.1:p.Ala142Pro
XM_011518178.1:c.79G>C	XP_011516480.1:p.Ala27Pro
XM_011518179.1:c.200G>C	XP_011516481.1:p.Cys67Ser
XM_011518180.1:c.687-7929G>C	XP_011516482.1:n.687-7929G>C
XM_011518176.3:c.430G>C	XP_011516478.1:p.Ala144Pro
XM_011518178.2:c.79G>C	XP_011516480.1:p.Ala27Pro
XM_017014232.1:c.1402G>C	XP_016869721.1:p.Ala468Pro
XM_017014233.1:c.1024G>C	XP_016869722.1:p.Ala342Pro
XM_017014234.2:c.424G>C	XP_016869723.1:p.Ala142Pro
XM_017014235.1:c.1414G>C	XP_016869724.1:p.Ala472Pro
XR_001746171.1:n.2639G>C
NM_139026.5:c.1321G>C	NP_620595.1:p.Ala441Pro
NM_139027.5:c.1414G>C	NP_620596.2:p.Ala472Pro
NM_139025.5:c.1414G>C	NP_620594.1:p.Ala472Pro
NM_139026.6:c.1321G>C	NP_620595.1:p.Ala441Pro
NM_139027.6:c.1414G>C MANE Select	NP_620596.2:p.Ala472Pro
NR_024514.3:n.995-2432G>C