Canonical Allele Identifier: CA375406229

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133449877-G-A
• MyVariant Identifiers: chr9:g.133449877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449877G>A , CM000671.2:g.133449877G>A	GRCh38
NC_000009.10:g.135304819G>A	NCBI36
NG_011934.2:g.40539G>A , LRG_544:g.40539G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2956G>A MANE Select	ENSP00000347927.2:p.Gly986Ser
ENST00000355699.6:c.2956G>A	ENSP00000347927.2:p.Gly986Ser
ENST00000356589.6:c.2863G>A	ENSP00000348997.2:p.Gly955Ser
ENST00000371916.5:c.*425G>A	ENSP00000360984.2:n.*425G>A
ENST00000371929.7:c.2956G>A	ENSP00000360997.3:p.Gly986Ser
ENST00000485925.5:n.1772G>A
ENST00000495234.5:c.*1788G>A	ENSP00000435274.1:n.*1788G>A
NM_139025.4:c.2956G>A , LRG_544t1:c.2956G>A	NP_620594.1:p.Gly986Ser
NM_139026.4:c.2863G>A	NP_620595.1:p.Gly955Ser
NM_139027.4:c.2956G>A	NP_620596.2:p.Gly986Ser
NR_024514.2:n.1791G>A
XM_011518174.1:c.2566G>A	XP_011516476.1:p.Gly856Ser
XM_011518175.1:c.2956G>A	XP_011516477.1:p.Gly986Ser
XM_011518176.1:c.1972G>A	XP_011516478.1:p.Gly658Ser
XM_011518177.1:c.1966G>A	XP_011516479.1:p.Gly656Ser
XM_011518178.1:c.1621G>A	XP_011516480.1:p.Gly541Ser
XM_011518179.1:c.1621G>A	XP_011516481.1:p.Gly541Ser
XM_011518180.1:c.1222G>A	XP_011516482.1:p.Gly408Ser
XM_011518176.3:c.1972G>A	XP_011516478.1:p.Gly658Ser
XM_011518178.2:c.1621G>A	XP_011516480.1:p.Gly541Ser
XM_017014232.1:c.2944G>A	XP_016869721.1:p.Gly982Ser
XM_017014233.1:c.2566G>A	XP_016869722.1:p.Gly856Ser
XM_017014234.2:c.1966G>A	XP_016869723.1:p.Gly656Ser
XR_001746171.1:n.3729G>A
NM_139026.5:c.2863G>A	NP_620595.1:p.Gly955Ser
NM_139027.5:c.2956G>A	NP_620596.2:p.Gly986Ser
NM_139025.5:c.2956G>A	NP_620594.1:p.Gly986Ser
NM_139026.6:c.2863G>A	NP_620595.1:p.Gly955Ser
NM_139027.6:c.2956G>A MANE Select	NP_620596.2:p.Gly986Ser
NR_024514.3:n.1793G>A