Canonical Allele Identifier: CA375410925

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1842632764
• gnomAD v4: 9-133454609-C-T
• MyVariant Identifiers: chr9:g.133454609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454609C>T , CM000671.2:g.133454609C>T	GRCh38
NC_000009.10:g.135309552C>T	NCBI36
NG_011934.2:g.45271C>T , LRG_544:g.45271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3239C>T MANE Select	ENSP00000347927.2:p.Thr1080Ile
ENST00000355699.6:c.3239C>T	ENSP00000347927.2:p.Thr1080Ile
ENST00000356589.6:c.3146C>T	ENSP00000348997.2:p.Thr1049Ile
ENST00000371916.5:c.*708C>T	ENSP00000360984.2:n.*708C>T
ENST00000371929.7:c.3239C>T	ENSP00000360997.3:p.Thr1080Ile
ENST00000485925.5:n.2055C>T
NM_139025.4:c.3239C>T , LRG_544t1:c.3239C>T	NP_620594.1:p.Thr1080Ile
NM_139026.4:c.3146C>T	NP_620595.1:p.Thr1049Ile
NM_139027.4:c.3239C>T	NP_620596.2:p.Thr1080Ile
NR_024514.2:n.2074C>T
XM_011518174.1:c.2849C>T	XP_011516476.1:p.Thr950Ile
XM_011518175.1:c.3239C>T	XP_011516477.1:p.Thr1080Ile
XM_011518176.1:c.2255C>T	XP_011516478.1:p.Thr752Ile
XM_011518177.1:c.2249C>T	XP_011516479.1:p.Thr750Ile
XM_011518178.1:c.1904C>T	XP_011516480.1:p.Thr635Ile
XM_011518179.1:c.1904C>T	XP_011516481.1:p.Thr635Ile
XM_011518180.1:c.1505C>T	XP_011516482.1:p.Thr502Ile
XM_011518176.3:c.2255C>T	XP_011516478.1:p.Thr752Ile
XM_011518178.2:c.1904C>T	XP_011516480.1:p.Thr635Ile
XM_017014232.1:c.3227C>T	XP_016869721.1:p.Thr1076Ile
XM_017014233.1:c.2849C>T	XP_016869722.1:p.Thr950Ile
XM_017014234.2:c.2249C>T	XP_016869723.1:p.Thr750Ile
NM_139026.5:c.3146C>T	NP_620595.1:p.Thr1049Ile
NM_139027.5:c.3239C>T	NP_620596.2:p.Thr1080Ile
NM_139025.5:c.3239C>T	NP_620594.1:p.Thr1080Ile
NM_139026.6:c.3146C>T	NP_620595.1:p.Thr1049Ile
NM_139027.6:c.3239C>T MANE Select	NP_620596.2:p.Thr1080Ile
NR_024514.3:n.2076C>T