Canonical Allele Identifier: CA375391665

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436889-C-G
• MyVariant Identifiers: chr9:g.133436889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436889C>G , CM000671.2:g.133436889C>G	GRCh38
NC_000009.10:g.135291830C>G	NCBI36
NG_011934.2:g.27551C>G , LRG_544:g.27551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1369C>G MANE Select	ENSP00000347927.2:p.Pro457Ala
ENST00000355699.6:c.1369C>G	ENSP00000347927.2:p.Pro457Ala
ENST00000356589.6:c.1276C>G	ENSP00000348997.2:p.Pro426Ala
ENST00000371916.5:c.625C>G	ENSP00000360984.2:p.Pro209Ala
ENST00000371929.7:c.1369C>G	ENSP00000360997.3:p.Pro457Ala
ENST00000474918.1:c.*173C>G	ENSP00000435305.1:n.*173C>G
ENST00000485925.5:n.974-2477C>G
ENST00000495234.5:c.*653C>G	ENSP00000435274.1:n.*653C>G
NM_139025.4:c.1369C>G , LRG_544t1:c.1369C>G	NP_620594.1:p.Pro457Ala
NM_139026.4:c.1276C>G	NP_620595.1:p.Pro426Ala
NM_139027.4:c.1369C>G	NP_620596.2:p.Pro457Ala
NR_024514.2:n.993-2477C>G
XM_011518174.1:c.979C>G	XP_011516476.1:p.Pro327Ala
XM_011518175.1:c.1369C>G	XP_011516477.1:p.Pro457Ala
XM_011518176.1:c.385C>G	XP_011516478.1:p.Pro129Ala
XM_011518177.1:c.379C>G	XP_011516479.1:p.Pro127Ala
XM_011518178.1:c.34C>G	XP_011516480.1:p.Pro12Ala
XM_011518179.1:c.155C>G	XP_011516481.1:p.Ala52Gly
XM_011518180.1:c.687-7974C>G	XP_011516482.1:n.687-7974C>G
XM_011518176.3:c.385C>G	XP_011516478.1:p.Pro129Ala
XM_011518178.2:c.34C>G	XP_011516480.1:p.Pro12Ala
XM_017014232.1:c.1357C>G	XP_016869721.1:p.Pro453Ala
XM_017014233.1:c.979C>G	XP_016869722.1:p.Pro327Ala
XM_017014234.2:c.379C>G	XP_016869723.1:p.Pro127Ala
XM_017014235.1:c.1369C>G	XP_016869724.1:p.Pro457Ala
XR_001746171.1:n.2594C>G
NM_139026.5:c.1276C>G	NP_620595.1:p.Pro426Ala
NM_139027.5:c.1369C>G	NP_620596.2:p.Pro457Ala
NM_139025.5:c.1369C>G	NP_620594.1:p.Pro457Ala
NM_139026.6:c.1276C>G	NP_620595.1:p.Pro426Ala
NM_139027.6:c.1369C>G MANE Select	NP_620596.2:p.Pro457Ala
NR_024514.3:n.995-2477C>G