Canonical Allele Identifier: CA375404723

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1842236233
• MyVariant Identifiers: chr9:g.133448724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448724G>T , CM000671.2:g.133448724G>T	GRCh38
NC_000009.10:g.135303666G>T	NCBI36
NG_011934.2:g.39386G>T , LRG_544:g.39386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2857G>T MANE Select	ENSP00000347927.2:p.Ala953Ser
ENST00000355699.6:c.2857G>T	ENSP00000347927.2:p.Ala953Ser
ENST00000356589.6:c.2764G>T	ENSP00000348997.2:p.Ala922Ser
ENST00000371916.5:c.*326G>T	ENSP00000360984.2:n.*326G>T
ENST00000371929.7:c.2857G>T	ENSP00000360997.3:p.Ala953Ser
ENST00000485925.5:n.1673G>T
ENST00000495234.5:c.*1689G>T	ENSP00000435274.1:n.*1689G>T
NM_139025.4:c.2857G>T , LRG_544t1:c.2857G>T	NP_620594.1:p.Ala953Ser
NM_139026.4:c.2764G>T	NP_620595.1:p.Ala922Ser
NM_139027.4:c.2857G>T	NP_620596.2:p.Ala953Ser
NR_024514.2:n.1692G>T
XM_011518174.1:c.2467G>T	XP_011516476.1:p.Ala823Ser
XM_011518175.1:c.2857G>T	XP_011516477.1:p.Ala953Ser
XM_011518176.1:c.1873G>T	XP_011516478.1:p.Ala625Ser
XM_011518177.1:c.1867G>T	XP_011516479.1:p.Ala623Ser
XM_011518178.1:c.1522G>T	XP_011516480.1:p.Ala508Ser
XM_011518179.1:c.1522G>T	XP_011516481.1:p.Ala508Ser
XM_011518180.1:c.1123G>T	XP_011516482.1:p.Ala375Ser
XM_011518176.3:c.1873G>T	XP_011516478.1:p.Ala625Ser
XM_011518178.2:c.1522G>T	XP_011516480.1:p.Ala508Ser
XM_017014232.1:c.2845G>T	XP_016869721.1:p.Ala949Ser
XM_017014233.1:c.2467G>T	XP_016869722.1:p.Ala823Ser
XM_017014234.2:c.1867G>T	XP_016869723.1:p.Ala623Ser
XR_001746171.1:n.3630G>T
NM_139026.5:c.2764G>T	NP_620595.1:p.Ala922Ser
NM_139027.5:c.2857G>T	NP_620596.2:p.Ala953Ser
NM_139025.5:c.2857G>T	NP_620594.1:p.Ala953Ser
NM_139026.6:c.2764G>T	NP_620595.1:p.Ala922Ser
NM_139027.6:c.2857G>T MANE Select	NP_620596.2:p.Ala953Ser
NR_024514.3:n.1694G>T