Canonical Allele Identifier: CA375391734

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436908G>T , CM000671.2:g.133436908G>T	GRCh38
NC_000009.10:g.135291849G>T	NCBI36
NG_011934.2:g.27570G>T , LRG_544:g.27570G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1388G>T MANE Select	ENSP00000347927.2:p.Gly463Val
ENST00000355699.6:c.1388G>T	ENSP00000347927.2:p.Gly463Val
ENST00000356589.6:c.1295G>T	ENSP00000348997.2:p.Gly432Val
ENST00000371916.5:c.644G>T	ENSP00000360984.2:p.Gly215Val
ENST00000371929.7:c.1388G>T	ENSP00000360997.3:p.Gly463Val
ENST00000474918.1:c.*192G>T	ENSP00000435305.1:n.*192G>T
ENST00000485925.5:n.974-2458G>T
ENST00000495234.5:c.*672G>T	ENSP00000435274.1:n.*672G>T
NM_139025.4:c.1388G>T , LRG_544t1:c.1388G>T	NP_620594.1:p.Gly463Val
NM_139026.4:c.1295G>T	NP_620595.1:p.Gly432Val
NM_139027.4:c.1388G>T	NP_620596.2:p.Gly463Val
NR_024514.2:n.993-2458G>T
XM_011518174.1:c.998G>T	XP_011516476.1:p.Gly333Val
XM_011518175.1:c.1388G>T	XP_011516477.1:p.Gly463Val
XM_011518176.1:c.404G>T	XP_011516478.1:p.Gly135Val
XM_011518177.1:c.398G>T	XP_011516479.1:p.Gly133Val
XM_011518178.1:c.53G>T	XP_011516480.1:p.Gly18Val
XM_011518179.1:c.174G>T	XP_011516481.1:p.Trp58Cys
XM_011518180.1:c.687-7955G>T	XP_011516482.1:n.687-7955G>T
XM_011518176.3:c.404G>T	XP_011516478.1:p.Gly135Val
XM_011518178.2:c.53G>T	XP_011516480.1:p.Gly18Val
XM_017014232.1:c.1376G>T	XP_016869721.1:p.Gly459Val
XM_017014233.1:c.998G>T	XP_016869722.1:p.Gly333Val
XM_017014234.2:c.398G>T	XP_016869723.1:p.Gly133Val
XM_017014235.1:c.1388G>T	XP_016869724.1:p.Gly463Val
XR_001746171.1:n.2613G>T
NM_139026.5:c.1295G>T	NP_620595.1:p.Gly432Val
NM_139027.5:c.1388G>T	NP_620596.2:p.Gly463Val
NM_139025.5:c.1388G>T	NP_620594.1:p.Gly463Val
NM_139026.6:c.1295G>T	NP_620595.1:p.Gly432Val
NM_139027.6:c.1388G>T MANE Select	NP_620596.2:p.Gly463Val
NR_024514.3:n.995-2458G>T