Canonical Allele Identifier: CA375414915

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456107A>T , CM000671.2:g.133456107A>T	GRCh38
NC_000009.10:g.135311050A>T	NCBI36
NG_011934.2:g.46769A>T , LRG_544:g.46769A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3439A>T MANE Select	ENSP00000347927.2:p.Ile1147Phe
ENST00000355699.6:c.3439A>T	ENSP00000347927.2:p.Ile1147Phe
ENST00000356589.6:c.3346A>T	ENSP00000348997.2:p.Ile1116Phe
ENST00000371910.1:c.-6A>T	ENSP00000360978.1:n.-6A>T
ENST00000371916.5:c.*908A>T	ENSP00000360984.2:n.*908A>T
ENST00000371929.7:c.3607A>T	ENSP00000360997.3:p.Ile1203Phe
ENST00000485925.5:n.2255A>T
NM_139025.4:c.3607A>T , LRG_544t1:c.3607A>T	NP_620594.1:p.Ile1203Phe
NM_139026.4:c.3346A>T	NP_620595.1:p.Ile1116Phe
NM_139027.4:c.3439A>T	NP_620596.2:p.Ile1147Phe
NR_024514.2:n.2274A>T
XM_011518174.1:c.3217A>T	XP_011516476.1:p.Ile1073Phe
XM_011518175.1:c.*14A>T	XP_011516477.1:n.*14A>T
XM_011518176.1:c.2623A>T	XP_011516478.1:p.Ile875Phe
XM_011518177.1:c.2617A>T	XP_011516479.1:p.Ile873Phe
XM_011518178.1:c.2272A>T	XP_011516480.1:p.Ile758Phe
XM_011518179.1:c.2272A>T	XP_011516481.1:p.Ile758Phe
XM_011518180.1:c.1873A>T	XP_011516482.1:p.Ile625Phe
XM_011518176.3:c.2623A>T	XP_011516478.1:p.Ile875Phe
XM_011518178.2:c.2272A>T	XP_011516480.1:p.Ile758Phe
XM_017014232.1:c.3595A>T	XP_016869721.1:p.Ile1199Phe
XM_017014233.1:c.3217A>T	XP_016869722.1:p.Ile1073Phe
XM_017014234.2:c.2617A>T	XP_016869723.1:p.Ile873Phe
NM_139026.5:c.3346A>T	NP_620595.1:p.Ile1116Phe
NM_139027.5:c.3439A>T	NP_620596.2:p.Ile1147Phe
NM_139025.5:c.3607A>T	NP_620594.1:p.Ile1203Phe
NM_139026.6:c.3346A>T	NP_620595.1:p.Ile1116Phe
NM_139027.6:c.3439A>T MANE Select	NP_620596.2:p.Ile1147Phe
NR_024514.3:n.2276A>T