Canonical Allele Identifier: CA375391715

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436904-C-G
• MyVariant Identifiers: chr9:g.133436904C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436904C>G , CM000671.2:g.133436904C>G	GRCh38
NC_000009.10:g.135291845C>G	NCBI36
NG_011934.2:g.27566C>G , LRG_544:g.27566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1384C>G MANE Select	ENSP00000347927.2:p.Pro462Ala
ENST00000355699.6:c.1384C>G	ENSP00000347927.2:p.Pro462Ala
ENST00000356589.6:c.1291C>G	ENSP00000348997.2:p.Pro431Ala
ENST00000371916.5:c.640C>G	ENSP00000360984.2:p.Pro214Ala
ENST00000371929.7:c.1384C>G	ENSP00000360997.3:p.Pro462Ala
ENST00000474918.1:c.*188C>G	ENSP00000435305.1:n.*188C>G
ENST00000485925.5:n.974-2462C>G
ENST00000495234.5:c.*668C>G	ENSP00000435274.1:n.*668C>G
NM_139025.4:c.1384C>G , LRG_544t1:c.1384C>G	NP_620594.1:p.Pro462Ala
NM_139026.4:c.1291C>G	NP_620595.1:p.Pro431Ala
NM_139027.4:c.1384C>G	NP_620596.2:p.Pro462Ala
NR_024514.2:n.993-2462C>G
XM_011518174.1:c.994C>G	XP_011516476.1:p.Pro332Ala
XM_011518175.1:c.1384C>G	XP_011516477.1:p.Pro462Ala
XM_011518176.1:c.400C>G	XP_011516478.1:p.Pro134Ala
XM_011518177.1:c.394C>G	XP_011516479.1:p.Pro132Ala
XM_011518178.1:c.49C>G	XP_011516480.1:p.Pro17Ala
XM_011518179.1:c.170C>G	XP_011516481.1:p.Pro57Arg
XM_011518180.1:c.687-7959C>G	XP_011516482.1:n.687-7959C>G
XM_011518176.3:c.400C>G	XP_011516478.1:p.Pro134Ala
XM_011518178.2:c.49C>G	XP_011516480.1:p.Pro17Ala
XM_017014232.1:c.1372C>G	XP_016869721.1:p.Pro458Ala
XM_017014233.1:c.994C>G	XP_016869722.1:p.Pro332Ala
XM_017014234.2:c.394C>G	XP_016869723.1:p.Pro132Ala
XM_017014235.1:c.1384C>G	XP_016869724.1:p.Pro462Ala
XR_001746171.1:n.2609C>G
NM_139026.5:c.1291C>G	NP_620595.1:p.Pro431Ala
NM_139027.5:c.1384C>G	NP_620596.2:p.Pro462Ala
NM_139025.5:c.1384C>G	NP_620594.1:p.Pro462Ala
NM_139026.6:c.1291C>G	NP_620595.1:p.Pro431Ala
NM_139027.6:c.1384C>G MANE Select	NP_620596.2:p.Pro462Ala
NR_024514.3:n.995-2462C>G