Canonical Allele Identifier: CA1882678616

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1564438130
• gnomAD v4: 9-133449858-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449858G>A , CM000671.2:g.133449858G>A	GRCh38
NC_000009.10:g.135304800G>A	NCBI36
NG_011934.2:g.40520G>A , LRG_544:g.40520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2937G>A MANE Select	ENSP00000347927.2:p.Arg979=
ENST00000355699.6:c.2937G>A	ENSP00000347927.2:p.Arg979=
ENST00000356589.6:c.2844G>A	ENSP00000348997.2:p.Arg948=
ENST00000371916.5:c.*406G>A	ENSP00000360984.2:n.*406G>A
ENST00000371929.7:c.2937G>A	ENSP00000360997.3:p.Arg979=
ENST00000485925.5:n.1753G>A
ENST00000495234.5:c.*1769G>A	ENSP00000435274.1:n.*1769G>A
NM_139025.4:c.2937G>A , LRG_544t1:c.2937G>A	NP_620594.1:p.Arg979=
NM_139026.4:c.2844G>A	NP_620595.1:p.Arg948=
NM_139027.4:c.2937G>A	NP_620596.2:p.Arg979=
NR_024514.2:n.1772G>A
XM_011518174.1:c.2547G>A	XP_011516476.1:p.Arg849=
XM_011518175.1:c.2937G>A	XP_011516477.1:p.Arg979=
XM_011518176.1:c.1953G>A	XP_011516478.1:p.Arg651=
XM_011518177.1:c.1947G>A	XP_011516479.1:p.Arg649=
XM_011518178.1:c.1602G>A	XP_011516480.1:p.Arg534=
XM_011518179.1:c.1602G>A	XP_011516481.1:p.Arg534=
XM_011518180.1:c.1203G>A	XP_011516482.1:p.Arg401=
XM_011518176.3:c.1953G>A	XP_011516478.1:p.Arg651=
XM_011518178.2:c.1602G>A	XP_011516480.1:p.Arg534=
XM_017014232.1:c.2925G>A	XP_016869721.1:p.Arg975=
XM_017014233.1:c.2547G>A	XP_016869722.1:p.Arg849=
XM_017014234.2:c.1947G>A	XP_016869723.1:p.Arg649=
XR_001746171.1:n.3710G>A
NM_139026.5:c.2844G>A	NP_620595.1:p.Arg948=
NM_139027.5:c.2937G>A	NP_620596.2:p.Arg979=
NM_139025.5:c.2937G>A	NP_620594.1:p.Arg979=
NM_139026.6:c.2844G>A	NP_620595.1:p.Arg948=
NM_139027.6:c.2937G>A MANE Select	NP_620596.2:p.Arg979=
NR_024514.3:n.1774G>A