Canonical Allele Identifier: CA375391727

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs782279962
• gnomAD v4: 9-133436907-G-A
• MyVariant Identifiers: chr9:g.133436907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436907G>A , CM000671.2:g.133436907G>A	GRCh38
NC_000009.10:g.135291848G>A	NCBI36
NG_011934.2:g.27569G>A , LRG_544:g.27569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1387G>A MANE Select	ENSP00000347927.2:p.Gly463Ser
ENST00000355699.6:c.1387G>A	ENSP00000347927.2:p.Gly463Ser
ENST00000356589.6:c.1294G>A	ENSP00000348997.2:p.Gly432Ser
ENST00000371916.5:c.643G>A	ENSP00000360984.2:p.Gly215Ser
ENST00000371929.7:c.1387G>A	ENSP00000360997.3:p.Gly463Ser
ENST00000474918.1:c.*191G>A	ENSP00000435305.1:n.*191G>A
ENST00000485925.5:n.974-2459G>A
ENST00000495234.5:c.*671G>A	ENSP00000435274.1:n.*671G>A
NM_139025.4:c.1387G>A , LRG_544t1:c.1387G>A	NP_620594.1:p.Gly463Ser
NM_139026.4:c.1294G>A	NP_620595.1:p.Gly432Ser
NM_139027.4:c.1387G>A	NP_620596.2:p.Gly463Ser
NR_024514.2:n.993-2459G>A
XM_011518174.1:c.997G>A	XP_011516476.1:p.Gly333Ser
XM_011518175.1:c.1387G>A	XP_011516477.1:p.Gly463Ser
XM_011518176.1:c.403G>A	XP_011516478.1:p.Gly135Ser
XM_011518177.1:c.397G>A	XP_011516479.1:p.Gly133Ser
XM_011518178.1:c.52G>A	XP_011516480.1:p.Gly18Ser
XM_011518179.1:c.173G>A	XP_011516481.1:p.Trp58Ter
XM_011518180.1:c.687-7956G>A	XP_011516482.1:n.687-7956G>A
XM_011518176.3:c.403G>A	XP_011516478.1:p.Gly135Ser
XM_011518178.2:c.52G>A	XP_011516480.1:p.Gly18Ser
XM_017014232.1:c.1375G>A	XP_016869721.1:p.Gly459Ser
XM_017014233.1:c.997G>A	XP_016869722.1:p.Gly333Ser
XM_017014234.2:c.397G>A	XP_016869723.1:p.Gly133Ser
XM_017014235.1:c.1387G>A	XP_016869724.1:p.Gly463Ser
XR_001746171.1:n.2612G>A
NM_139026.5:c.1294G>A	NP_620595.1:p.Gly432Ser
NM_139027.5:c.1387G>A	NP_620596.2:p.Gly463Ser
NM_139025.5:c.1387G>A	NP_620594.1:p.Gly463Ser
NM_139026.6:c.1294G>A	NP_620595.1:p.Gly432Ser
NM_139027.6:c.1387G>A MANE Select	NP_620596.2:p.Gly463Ser
NR_024514.3:n.995-2459G>A