Canonical Allele Identifier: CA375391580

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436870-C-A
• MyVariant Identifiers: chr9:g.133436870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436870C>A , CM000671.2:g.133436870C>A	GRCh38
NC_000009.10:g.135291811C>A	NCBI36
NG_011934.2:g.27532C>A , LRG_544:g.27532C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1350C>A MANE Select	ENSP00000347927.2:p.Cys450Ter
ENST00000355699.6:c.1350C>A	ENSP00000347927.2:p.Cys450Ter
ENST00000356589.6:c.1257C>A	ENSP00000348997.2:p.Cys419Ter
ENST00000371916.5:c.606C>A	ENSP00000360984.2:p.Cys202Ter
ENST00000371929.7:c.1350C>A	ENSP00000360997.3:p.Cys450Ter
ENST00000474918.1:c.*154C>A	ENSP00000435305.1:n.*154C>A
ENST00000485925.5:n.974-2496C>A
ENST00000495234.5:c.*634C>A	ENSP00000435274.1:n.*634C>A
NM_139025.4:c.1350C>A , LRG_544t1:c.1350C>A	NP_620594.1:p.Cys450Ter
NM_139026.4:c.1257C>A	NP_620595.1:p.Cys419Ter
NM_139027.4:c.1350C>A	NP_620596.2:p.Cys450Ter
NR_024514.2:n.993-2496C>A
XM_011518174.1:c.960C>A	XP_011516476.1:p.Cys320Ter
XM_011518175.1:c.1350C>A	XP_011516477.1:p.Cys450Ter
XM_011518176.1:c.366C>A	XP_011516478.1:p.Cys122Ter
XM_011518177.1:c.360C>A	XP_011516479.1:p.Cys120Ter
XM_011518178.1:c.15C>A	XP_011516480.1:p.Cys5Ter
XM_011518179.1:c.136C>A	XP_011516481.1:p.Arg46Ser
XM_011518180.1:c.687-7993C>A	XP_011516482.1:n.687-7993C>A
XM_011518176.3:c.366C>A	XP_011516478.1:p.Cys122Ter
XM_011518178.2:c.15C>A	XP_011516480.1:p.Cys5Ter
XM_017014232.1:c.1338C>A	XP_016869721.1:p.Cys446Ter
XM_017014233.1:c.960C>A	XP_016869722.1:p.Cys320Ter
XM_017014234.2:c.360C>A	XP_016869723.1:p.Cys120Ter
XM_017014235.1:c.1350C>A	XP_016869724.1:p.Cys450Ter
XR_001746171.1:n.2575C>A
NM_139026.5:c.1257C>A	NP_620595.1:p.Cys419Ter
NM_139027.5:c.1350C>A	NP_620596.2:p.Cys450Ter
NM_139025.5:c.1350C>A	NP_620594.1:p.Cys450Ter
NM_139026.6:c.1257C>A	NP_620595.1:p.Cys419Ter
NM_139027.6:c.1350C>A MANE Select	NP_620596.2:p.Cys450Ter
NR_024514.3:n.995-2496C>A