Canonical Allele Identifier: CA10629432

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456653G>A , CM000671.2:g.133456653G>A	GRCh38
NC_000009.10:g.135311596G>A	NCBI36
NG_011934.2:g.47315G>A , LRG_544:g.47315G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3658G>A MANE Select	NP_620596.2:p.Gly1220Arg
ENST00000355699.7:c.3658G>A MANE Select	ENSP00000347927.2:p.Gly1220Arg
NM_139025.4:c.3826G>A , LRG_544t1:c.3826G>A	NP_620594.1:p.Gly1276Arg
NM_139025.5:c.3826G>A	NP_620594.1:p.Gly1276Arg
NM_139026.4:c.3565G>A	NP_620595.1:p.Gly1189Arg
NM_139026.5:c.3565G>A	NP_620595.1:p.Gly1189Arg
NM_139026.6:c.3565G>A	NP_620595.1:p.Gly1189Arg
NM_139027.4:c.3658G>A	NP_620596.2:p.Gly1220Arg
NM_139027.5:c.3658G>A	NP_620596.2:p.Gly1220Arg
NR_024514.2:n.2493G>A
NR_024514.3:n.2495G>A
ENST00000355699.6:c.3658G>A	ENSP00000347927.2:p.Gly1220Arg
ENST00000356589.6:c.3565G>A	ENSP00000348997.2:p.Gly1189Arg
ENST00000371910.1:c.214G>A	ENSP00000360978.1:p.Gly72Arg
ENST00000371916.5:c.*1127G>A	ENSP00000360984.2:n.*1127G>A
ENST00000371929.7:c.3826G>A	ENSP00000360997.3:p.Gly1276Arg
ENST00000485925.5:n.2474G>A
XM_011518174.1:c.3436G>A	XP_011516476.1:p.Gly1146Arg
XM_011518176.1:c.2842G>A	XP_011516478.1:p.Gly948Arg
XM_011518176.3:c.2842G>A	XP_011516478.1:p.Gly948Arg
XM_011518177.1:c.2836G>A	XP_011516479.1:p.Gly946Arg
XM_011518178.1:c.2491G>A	XP_011516480.1:p.Gly831Arg
XM_011518178.2:c.2491G>A	XP_011516480.1:p.Gly831Arg
XM_011518179.1:c.2491G>A	XP_011516481.1:p.Gly831Arg
XM_011518180.1:c.2092G>A	XP_011516482.1:p.Gly698Arg
XM_017014232.1:c.3814G>A	XP_016869721.1:p.Gly1272Arg
XM_017014233.1:c.3436G>A	XP_016869722.1:p.Gly1146Arg
XM_017014234.2:c.2836G>A	XP_016869723.1:p.Gly946Arg