Canonical Allele Identifier: CA200945493

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456652C>A , CM000671.2:g.133456652C>A	GRCh38
NC_000009.10:g.135311595C>A	NCBI36
NG_011934.2:g.47314C>A , LRG_544:g.47314C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3657C>A MANE Select	NP_620596.2:p.Cys1219Ter
ENST00000355699.7:c.3657C>A MANE Select	ENSP00000347927.2:p.Cys1219Ter
NM_139025.4:c.3825C>A , LRG_544t1:c.3825C>A	NP_620594.1:p.Cys1275Ter
NM_139025.5:c.3825C>A	NP_620594.1:p.Cys1275Ter
NM_139026.4:c.3564C>A	NP_620595.1:p.Cys1188Ter
NM_139026.5:c.3564C>A	NP_620595.1:p.Cys1188Ter
NM_139026.6:c.3564C>A	NP_620595.1:p.Cys1188Ter
NM_139027.4:c.3657C>A	NP_620596.2:p.Cys1219Ter
NM_139027.5:c.3657C>A	NP_620596.2:p.Cys1219Ter
NR_024514.2:n.2492C>A
NR_024514.3:n.2494C>A
ENST00000355699.6:c.3657C>A	ENSP00000347927.2:p.Cys1219Ter
ENST00000356589.6:c.3564C>A	ENSP00000348997.2:p.Cys1188Ter
ENST00000371910.1:c.213C>A	ENSP00000360978.1:p.Cys71Ter
ENST00000371916.5:c.*1126C>A	ENSP00000360984.2:n.*1126C>A
ENST00000371929.7:c.3825C>A	ENSP00000360997.3:p.Cys1275Ter
ENST00000485925.5:n.2473C>A
XM_011518174.1:c.3435C>A	XP_011516476.1:p.Cys1145Ter
XM_011518176.1:c.2841C>A	XP_011516478.1:p.Cys947Ter
XM_011518176.3:c.2841C>A	XP_011516478.1:p.Cys947Ter
XM_011518177.1:c.2835C>A	XP_011516479.1:p.Cys945Ter
XM_011518178.1:c.2490C>A	XP_011516480.1:p.Cys830Ter
XM_011518178.2:c.2490C>A	XP_011516480.1:p.Cys830Ter
XM_011518179.1:c.2490C>A	XP_011516481.1:p.Cys830Ter
XM_011518180.1:c.2091C>A	XP_011516482.1:p.Cys697Ter
XM_017014232.1:c.3813C>A	XP_016869721.1:p.Cys1271Ter
XM_017014233.1:c.3435C>A	XP_016869722.1:p.Cys1145Ter
XM_017014234.2:c.2835C>A	XP_016869723.1:p.Cys945Ter