Canonical Allele Identifier: CA375403938

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133448655-G-T
• MyVariant Identifiers: chr9:g.133448655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448655G>T , CM000671.2:g.133448655G>T	GRCh38
NC_000009.10:g.135303597G>T	NCBI36
NG_011934.2:g.39317G>T , LRG_544:g.39317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2788G>T MANE Select	ENSP00000347927.2:p.Glu930Ter
ENST00000355699.6:c.2788G>T	ENSP00000347927.2:p.Glu930Ter
ENST00000356589.6:c.2695G>T	ENSP00000348997.2:p.Glu899Ter
ENST00000371916.5:c.*257G>T	ENSP00000360984.2:n.*257G>T
ENST00000371929.7:c.2788G>T	ENSP00000360997.3:p.Glu930Ter
ENST00000485925.5:n.1604G>T
ENST00000495234.5:c.*1620G>T	ENSP00000435274.1:n.*1620G>T
NM_139025.4:c.2788G>T , LRG_544t1:c.2788G>T	NP_620594.1:p.Glu930Ter
NM_139026.4:c.2695G>T	NP_620595.1:p.Glu899Ter
NM_139027.4:c.2788G>T	NP_620596.2:p.Glu930Ter
NR_024514.2:n.1623G>T
XM_011518174.1:c.2398G>T	XP_011516476.1:p.Glu800Ter
XM_011518175.1:c.2788G>T	XP_011516477.1:p.Glu930Ter
XM_011518176.1:c.1804G>T	XP_011516478.1:p.Glu602Ter
XM_011518177.1:c.1798G>T	XP_011516479.1:p.Glu600Ter
XM_011518178.1:c.1453G>T	XP_011516480.1:p.Glu485Ter
XM_011518179.1:c.1453G>T	XP_011516481.1:p.Glu485Ter
XM_011518180.1:c.1054G>T	XP_011516482.1:p.Glu352Ter
XM_011518176.3:c.1804G>T	XP_011516478.1:p.Glu602Ter
XM_011518178.2:c.1453G>T	XP_011516480.1:p.Glu485Ter
XM_017014232.1:c.2776G>T	XP_016869721.1:p.Glu926Ter
XM_017014233.1:c.2398G>T	XP_016869722.1:p.Glu800Ter
XM_017014234.2:c.1798G>T	XP_016869723.1:p.Glu600Ter
XR_001746171.1:n.3561G>T
NM_139026.5:c.2695G>T	NP_620595.1:p.Glu899Ter
NM_139027.5:c.2788G>T	NP_620596.2:p.Glu930Ter
NM_139025.5:c.2788G>T	NP_620594.1:p.Glu930Ter
NM_139026.6:c.2695G>T	NP_620595.1:p.Glu899Ter
NM_139027.6:c.2788G>T MANE Select	NP_620596.2:p.Glu930Ter
NR_024514.3:n.1625G>T