Canonical Allele Identifier: CA200940013

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449811G>A , CM000671.2:g.133449811G>A	GRCh38
NC_000009.10:g.135304753G>A	NCBI36
NG_011934.2:g.40473G>A , LRG_544:g.40473G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2890G>A MANE Select	NP_620596.2:p.Val964Met
ENST00000355699.7:c.2890G>A MANE Select	ENSP00000347927.2:p.Val964Met
NM_139025.4:c.2890G>A , LRG_544t1:c.2890G>A	NP_620594.1:p.Val964Met
NM_139025.5:c.2890G>A	NP_620594.1:p.Val964Met
NM_139026.4:c.2797G>A	NP_620595.1:p.Val933Met
NM_139026.5:c.2797G>A	NP_620595.1:p.Val933Met
NM_139026.6:c.2797G>A	NP_620595.1:p.Val933Met
NM_139027.4:c.2890G>A	NP_620596.2:p.Val964Met
NM_139027.5:c.2890G>A	NP_620596.2:p.Val964Met
NR_024514.2:n.1725G>A
NR_024514.3:n.1727G>A
ENST00000355699.6:c.2890G>A	ENSP00000347927.2:p.Val964Met
ENST00000356589.6:c.2797G>A	ENSP00000348997.2:p.Val933Met
ENST00000371916.5:c.*359G>A	ENSP00000360984.2:n.*359G>A
ENST00000371929.7:c.2890G>A	ENSP00000360997.3:p.Val964Met
ENST00000485925.5:n.1706G>A
ENST00000495234.5:c.*1722G>A	ENSP00000435274.1:n.*1722G>A
XM_011518174.1:c.2500G>A	XP_011516476.1:p.Val834Met
XM_011518175.1:c.2890G>A	XP_011516477.1:p.Val964Met
XM_011518176.1:c.1906G>A	XP_011516478.1:p.Val636Met
XM_011518176.3:c.1906G>A	XP_011516478.1:p.Val636Met
XM_011518177.1:c.1900G>A	XP_011516479.1:p.Val634Met
XM_011518178.1:c.1555G>A	XP_011516480.1:p.Val519Met
XM_011518178.2:c.1555G>A	XP_011516480.1:p.Val519Met
XM_011518179.1:c.1555G>A	XP_011516481.1:p.Val519Met
XM_011518180.1:c.1156G>A	XP_011516482.1:p.Val386Met
XM_017014232.1:c.2878G>A	XP_016869721.1:p.Val960Met
XM_017014233.1:c.2500G>A	XP_016869722.1:p.Val834Met
XM_017014234.2:c.1900G>A	XP_016869723.1:p.Val634Met
XR_001746171.1:n.3663G>A