Canonical Allele Identifier: CA375410596

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454530-G-T
• MyVariant Identifiers: chr9:g.133454530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454530G>T , CM000671.2:g.133454530G>T	GRCh38
NC_000009.10:g.135309473G>T	NCBI36
NG_011934.2:g.45192G>T , LRG_544:g.45192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3160G>T MANE Select	ENSP00000347927.2:p.Ala1054Ser
ENST00000355699.6:c.3160G>T	ENSP00000347927.2:p.Ala1054Ser
ENST00000356589.6:c.3067G>T	ENSP00000348997.2:p.Ala1023Ser
ENST00000371916.5:c.*629G>T	ENSP00000360984.2:n.*629G>T
ENST00000371929.7:c.3160G>T	ENSP00000360997.3:p.Ala1054Ser
ENST00000485925.5:n.1976G>T
NM_139025.4:c.3160G>T , LRG_544t1:c.3160G>T	NP_620594.1:p.Ala1054Ser
NM_139026.4:c.3067G>T	NP_620595.1:p.Ala1023Ser
NM_139027.4:c.3160G>T	NP_620596.2:p.Ala1054Ser
NR_024514.2:n.1995G>T
XM_011518174.1:c.2770G>T	XP_011516476.1:p.Ala924Ser
XM_011518175.1:c.3160G>T	XP_011516477.1:p.Ala1054Ser
XM_011518176.1:c.2176G>T	XP_011516478.1:p.Ala726Ser
XM_011518177.1:c.2170G>T	XP_011516479.1:p.Ala724Ser
XM_011518178.1:c.1825G>T	XP_011516480.1:p.Ala609Ser
XM_011518179.1:c.1825G>T	XP_011516481.1:p.Ala609Ser
XM_011518180.1:c.1426G>T	XP_011516482.1:p.Ala476Ser
XM_011518176.3:c.2176G>T	XP_011516478.1:p.Ala726Ser
XM_011518178.2:c.1825G>T	XP_011516480.1:p.Ala609Ser
XM_017014232.1:c.3148G>T	XP_016869721.1:p.Ala1050Ser
XM_017014233.1:c.2770G>T	XP_016869722.1:p.Ala924Ser
XM_017014234.2:c.2170G>T	XP_016869723.1:p.Ala724Ser
NM_139026.5:c.3067G>T	NP_620595.1:p.Ala1023Ser
NM_139027.5:c.3160G>T	NP_620596.2:p.Ala1054Ser
NM_139025.5:c.3160G>T	NP_620594.1:p.Ala1054Ser
NM_139026.6:c.3067G>T	NP_620595.1:p.Ala1023Ser
NM_139027.6:c.3160G>T MANE Select	NP_620596.2:p.Ala1054Ser
NR_024514.3:n.1997G>T