Canonical Allele Identifier: CA375414919

Gene: ADAMTS13

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3439A>C MANE Select	ENSP00000347927.2:p.Ile1147Leu
ENST00000355699.6:c.3439A>C	ENSP00000347927.2:p.Ile1147Leu
ENST00000356589.6:c.3346A>C	ENSP00000348997.2:p.Ile1116Leu
ENST00000371910.1:c.-6A>C	ENSP00000360978.1:n.-6A>C
ENST00000371916.5:c.*908A>C	ENSP00000360984.2:n.*908A>C
ENST00000371929.7:c.3607A>C	ENSP00000360997.3:p.Ile1203Leu
ENST00000485925.5:n.2255A>C
NM_139025.4:c.3607A>C , LRG_544t1:c.3607A>C	NP_620594.1:p.Ile1203Leu
NM_139026.4:c.3346A>C	NP_620595.1:p.Ile1116Leu
NM_139027.4:c.3439A>C	NP_620596.2:p.Ile1147Leu
NR_024514.2:n.2274A>C
XM_011518174.1:c.3217A>C	XP_011516476.1:p.Ile1073Leu
XM_011518175.1:c.*14A>C	XP_011516477.1:n.*14A>C
XM_011518176.1:c.2623A>C	XP_011516478.1:p.Ile875Leu
XM_011518177.1:c.2617A>C	XP_011516479.1:p.Ile873Leu
XM_011518178.1:c.2272A>C	XP_011516480.1:p.Ile758Leu
XM_011518179.1:c.2272A>C	XP_011516481.1:p.Ile758Leu
XM_011518180.1:c.1873A>C	XP_011516482.1:p.Ile625Leu
XM_011518176.3:c.2623A>C	XP_011516478.1:p.Ile875Leu
XM_011518178.2:c.2272A>C	XP_011516480.1:p.Ile758Leu
XM_017014232.1:c.3595A>C	XP_016869721.1:p.Ile1199Leu
XM_017014233.1:c.3217A>C	XP_016869722.1:p.Ile1073Leu
XM_017014234.2:c.2617A>C	XP_016869723.1:p.Ile873Leu
NM_139026.5:c.3346A>C	NP_620595.1:p.Ile1116Leu
NM_139027.5:c.3439A>C	NP_620596.2:p.Ile1147Leu
NM_139025.5:c.3607A>C	NP_620594.1:p.Ile1203Leu
NM_139026.6:c.3346A>C	NP_620595.1:p.Ile1116Leu
NM_139027.6:c.3439A>C MANE Select	NP_620596.2:p.Ile1147Leu
NR_024514.3:n.2276A>C