Canonical Allele Identifier: CA375410124

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1554795097
• gnomAD v4: 9-133454450-G-A
• MyVariant Identifiers: chr9:g.133454450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454450G>A , CM000671.2:g.133454450G>A	GRCh38
NC_000009.10:g.135309393G>A	NCBI36
NG_011934.2:g.45112G>A , LRG_544:g.45112G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.3080G>A MANE Select	ENSP00000347927.2:p.Ser1027Asn
ENST00000355699.6:c.3080G>A	ENSP00000347927.2:p.Ser1027Asn
ENST00000356589.6:c.2987G>A	ENSP00000348997.2:p.Ser996Asn
ENST00000371916.5:c.*549G>A	ENSP00000360984.2:n.*549G>A
ENST00000371929.7:c.3080G>A	ENSP00000360997.3:p.Ser1027Asn
ENST00000485925.5:n.1896G>A
NM_139025.4:c.3080G>A , LRG_544t1:c.3080G>A	NP_620594.1:p.Ser1027Asn
NM_139026.4:c.2987G>A	NP_620595.1:p.Ser996Asn
NM_139027.4:c.3080G>A	NP_620596.2:p.Ser1027Asn
NR_024514.2:n.1915G>A
XM_011518174.1:c.2690G>A	XP_011516476.1:p.Ser897Asn
XM_011518175.1:c.3080G>A	XP_011516477.1:p.Ser1027Asn
XM_011518176.1:c.2096G>A	XP_011516478.1:p.Ser699Asn
XM_011518177.1:c.2090G>A	XP_011516479.1:p.Ser697Asn
XM_011518178.1:c.1745G>A	XP_011516480.1:p.Ser582Asn
XM_011518179.1:c.1745G>A	XP_011516481.1:p.Ser582Asn
XM_011518180.1:c.1346G>A	XP_011516482.1:p.Ser449Asn
XM_011518176.3:c.2096G>A	XP_011516478.1:p.Ser699Asn
XM_011518178.2:c.1745G>A	XP_011516480.1:p.Ser582Asn
XM_017014232.1:c.3068G>A	XP_016869721.1:p.Ser1023Asn
XM_017014233.1:c.2690G>A	XP_016869722.1:p.Ser897Asn
XM_017014234.2:c.2090G>A	XP_016869723.1:p.Ser697Asn
XR_001746171.1:n.3853G>A
NM_139026.5:c.2987G>A	NP_620595.1:p.Ser996Asn
NM_139027.5:c.3080G>A	NP_620596.2:p.Ser1027Asn
NM_139025.5:c.3080G>A	NP_620594.1:p.Ser1027Asn
NM_139026.6:c.2987G>A	NP_620595.1:p.Ser996Asn
NM_139027.6:c.3080G>A MANE Select	NP_620596.2:p.Ser1027Asn
NR_024514.3:n.1917G>A