Canonical Allele Identifier: CA375410466

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454513T>A , CM000671.2:g.133454513T>A	GRCh38
NC_000009.10:g.135309456T>A	NCBI36
NG_011934.2:g.45175T>A , LRG_544:g.45175T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3143T>A MANE Select	ENSP00000347927.2:p.Val1048Glu
ENST00000355699.6:c.3143T>A	ENSP00000347927.2:p.Val1048Glu
ENST00000356589.6:c.3050T>A	ENSP00000348997.2:p.Val1017Glu
ENST00000371916.5:c.*612T>A	ENSP00000360984.2:n.*612T>A
ENST00000371929.7:c.3143T>A	ENSP00000360997.3:p.Val1048Glu
ENST00000485925.5:n.1959T>A
NM_139025.4:c.3143T>A , LRG_544t1:c.3143T>A	NP_620594.1:p.Val1048Glu
NM_139026.4:c.3050T>A	NP_620595.1:p.Val1017Glu
NM_139027.4:c.3143T>A	NP_620596.2:p.Val1048Glu
NR_024514.2:n.1978T>A
XM_011518174.1:c.2753T>A	XP_011516476.1:p.Val918Glu
XM_011518175.1:c.3143T>A	XP_011516477.1:p.Val1048Glu
XM_011518176.1:c.2159T>A	XP_011516478.1:p.Val720Glu
XM_011518177.1:c.2153T>A	XP_011516479.1:p.Val718Glu
XM_011518178.1:c.1808T>A	XP_011516480.1:p.Val603Glu
XM_011518179.1:c.1808T>A	XP_011516481.1:p.Val603Glu
XM_011518180.1:c.1409T>A	XP_011516482.1:p.Val470Glu
XM_011518176.3:c.2159T>A	XP_011516478.1:p.Val720Glu
XM_011518178.2:c.1808T>A	XP_011516480.1:p.Val603Glu
XM_017014232.1:c.3131T>A	XP_016869721.1:p.Val1044Glu
XM_017014233.1:c.2753T>A	XP_016869722.1:p.Val918Glu
XM_017014234.2:c.2153T>A	XP_016869723.1:p.Val718Glu
NM_139026.5:c.3050T>A	NP_620595.1:p.Val1017Glu
NM_139027.5:c.3143T>A	NP_620596.2:p.Val1048Glu
NM_139025.5:c.3143T>A	NP_620594.1:p.Val1048Glu
NM_139026.6:c.3050T>A	NP_620595.1:p.Val1017Glu
NM_139027.6:c.3143T>A MANE Select	NP_620596.2:p.Val1048Glu
NR_024514.3:n.1980T>A