Canonical Allele Identifier: CA375403645

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1554793281
• gnomAD v4: 9-133448623-G-A
• MyVariant Identifiers: chr9:g.133448623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448623G>A , CM000671.2:g.133448623G>A	GRCh38
NC_000009.10:g.135303565G>A	NCBI36
NG_011934.2:g.39285G>A , LRG_544:g.39285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2756G>A MANE Select	ENSP00000347927.2:p.Cys919Tyr
ENST00000355699.6:c.2756G>A	ENSP00000347927.2:p.Cys919Tyr
ENST00000356589.6:c.2663G>A	ENSP00000348997.2:p.Cys888Tyr
ENST00000371916.5:c.*225G>A	ENSP00000360984.2:n.*225G>A
ENST00000371929.7:c.2756G>A	ENSP00000360997.3:p.Cys919Tyr
ENST00000485925.5:n.1572G>A
ENST00000495234.5:c.*1588G>A	ENSP00000435274.1:n.*1588G>A
NM_139025.4:c.2756G>A , LRG_544t1:c.2756G>A	NP_620594.1:p.Cys919Tyr
NM_139026.4:c.2663G>A	NP_620595.1:p.Cys888Tyr
NM_139027.4:c.2756G>A	NP_620596.2:p.Cys919Tyr
NR_024514.2:n.1591G>A
XM_011518174.1:c.2366G>A	XP_011516476.1:p.Cys789Tyr
XM_011518175.1:c.2756G>A	XP_011516477.1:p.Cys919Tyr
XM_011518176.1:c.1772G>A	XP_011516478.1:p.Cys591Tyr
XM_011518177.1:c.1766G>A	XP_011516479.1:p.Cys589Tyr
XM_011518178.1:c.1421G>A	XP_011516480.1:p.Cys474Tyr
XM_011518179.1:c.1421G>A	XP_011516481.1:p.Cys474Tyr
XM_011518180.1:c.1022G>A	XP_011516482.1:p.Cys341Tyr
XM_011518176.3:c.1772G>A	XP_011516478.1:p.Cys591Tyr
XM_011518178.2:c.1421G>A	XP_011516480.1:p.Cys474Tyr
XM_017014232.1:c.2744G>A	XP_016869721.1:p.Cys915Tyr
XM_017014233.1:c.2366G>A	XP_016869722.1:p.Cys789Tyr
XM_017014234.2:c.1766G>A	XP_016869723.1:p.Cys589Tyr
XR_001746171.1:n.3529G>A
NM_139026.5:c.2663G>A	NP_620595.1:p.Cys888Tyr
NM_139027.5:c.2756G>A	NP_620596.2:p.Cys919Tyr
NM_139025.5:c.2756G>A	NP_620594.1:p.Cys919Tyr
NM_139026.6:c.2663G>A	NP_620595.1:p.Cys888Tyr
NM_139027.6:c.2756G>A MANE Select	NP_620596.2:p.Cys919Tyr
NR_024514.3:n.1593G>A