Canonical Allele Identifier: CA200943932

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133455319G>A , CM000671.2:g.133455319G>A	GRCh38
NC_000009.10:g.135310262G>A	NCBI36
NG_011934.2:g.45981G>A , LRG_544:g.45981G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3284G>A MANE Select	NP_620596.2:p.Arg1095Gln
ENST00000355699.7:c.3284G>A MANE Select	ENSP00000347927.2:p.Arg1095Gln
NM_139025.4:c.3284G>A , LRG_544t1:c.3284G>A	NP_620594.1:p.Arg1095Gln
NM_139025.5:c.3284G>A	NP_620594.1:p.Arg1095Gln
NM_139026.4:c.3191G>A	NP_620595.1:p.Arg1064Gln
NM_139026.5:c.3191G>A	NP_620595.1:p.Arg1064Gln
NM_139026.6:c.3191G>A	NP_620595.1:p.Arg1064Gln
NM_139027.4:c.3284G>A	NP_620596.2:p.Arg1095Gln
NM_139027.5:c.3284G>A	NP_620596.2:p.Arg1095Gln
NR_024514.2:n.2119G>A
NR_024514.3:n.2121G>A
ENST00000355699.6:c.3284G>A	ENSP00000347927.2:p.Arg1095Gln
ENST00000356589.6:c.3191G>A	ENSP00000348997.2:p.Arg1064Gln
ENST00000371916.5:c.*753G>A	ENSP00000360984.2:n.*753G>A
ENST00000371929.7:c.3284G>A	ENSP00000360997.3:p.Arg1095Gln
ENST00000485925.5:n.2100G>A
XM_011518174.1:c.2894G>A	XP_011516476.1:p.Arg965Gln
XM_011518175.1:c.3284G>A	XP_011516477.1:p.Arg1095Gln
XM_011518176.1:c.2300G>A	XP_011516478.1:p.Arg767Gln
XM_011518176.3:c.2300G>A	XP_011516478.1:p.Arg767Gln
XM_011518177.1:c.2294G>A	XP_011516479.1:p.Arg765Gln
XM_011518178.1:c.1949G>A	XP_011516480.1:p.Arg650Gln
XM_011518178.2:c.1949G>A	XP_011516480.1:p.Arg650Gln
XM_011518179.1:c.1949G>A	XP_011516481.1:p.Arg650Gln
XM_011518180.1:c.1550G>A	XP_011516482.1:p.Arg517Gln
XM_017014232.1:c.3272G>A	XP_016869721.1:p.Arg1091Gln
XM_017014233.1:c.2894G>A	XP_016869722.1:p.Arg965Gln
XM_017014234.2:c.2294G>A	XP_016869723.1:p.Arg765Gln