Canonical Allele Identifier: CA2692371129

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436873-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436873C>A , CM000671.2:g.133436873C>A	GRCh38
NC_000009.10:g.135291814C>A	NCBI36
NG_011934.2:g.27535C>A , LRG_544:g.27535C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1353C>A MANE Select	ENSP00000347927.2:p.Ala451=
ENST00000355699.6:c.1353C>A	ENSP00000347927.2:p.Ala451=
ENST00000356589.6:c.1260C>A	ENSP00000348997.2:p.Ala420=
ENST00000371916.5:c.609C>A	ENSP00000360984.2:p.Ala203=
ENST00000371929.7:c.1353C>A	ENSP00000360997.3:p.Ala451=
ENST00000474918.1:c.*157C>A	ENSP00000435305.1:n.*157C>A
ENST00000485925.5:n.974-2493C>A
ENST00000495234.5:c.*637C>A	ENSP00000435274.1:n.*637C>A
NM_139025.4:c.1353C>A , LRG_544t1:c.1353C>A	NP_620594.1:p.Ala451=
NM_139026.4:c.1260C>A	NP_620595.1:p.Ala420=
NM_139027.4:c.1353C>A	NP_620596.2:p.Ala451=
NR_024514.2:n.993-2493C>A
XM_011518174.1:c.963C>A	XP_011516476.1:p.Ala321=
XM_011518175.1:c.1353C>A	XP_011516477.1:p.Ala451=
XM_011518176.1:c.369C>A	XP_011516478.1:p.Ala123=
XM_011518177.1:c.363C>A	XP_011516479.1:p.Ala121=
XM_011518178.1:c.18C>A	XP_011516480.1:p.Ala6=
XM_011518179.1:c.139C>A	XP_011516481.1:p.Gln47Lys
XM_011518180.1:c.687-7990C>A	XP_011516482.1:n.687-7990C>A
XM_011518176.3:c.369C>A	XP_011516478.1:p.Ala123=
XM_011518178.2:c.18C>A	XP_011516480.1:p.Ala6=
XM_017014232.1:c.1341C>A	XP_016869721.1:p.Ala447=
XM_017014233.1:c.963C>A	XP_016869722.1:p.Ala321=
XM_017014234.2:c.363C>A	XP_016869723.1:p.Ala121=
XM_017014235.1:c.1353C>A	XP_016869724.1:p.Ala451=
XR_001746171.1:n.2578C>A
NM_139026.5:c.1260C>A	NP_620595.1:p.Ala420=
NM_139027.5:c.1353C>A	NP_620596.2:p.Ala451=
NM_139025.5:c.1353C>A	NP_620594.1:p.Ala451=
NM_139026.6:c.1260C>A	NP_620595.1:p.Ala420=
NM_139027.6:c.1353C>A MANE Select	NP_620596.2:p.Ala451=
NR_024514.3:n.995-2493C>A