Canonical Allele Identifier: CA200940053

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449857G>A , CM000671.2:g.133449857G>A	GRCh38
NC_000009.10:g.135304799G>A	NCBI36
NG_011934.2:g.40519G>A , LRG_544:g.40519G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.2936G>A MANE Select	NP_620596.2:p.Arg979Gln
ENST00000355699.7:c.2936G>A MANE Select	ENSP00000347927.2:p.Arg979Gln
NM_139025.4:c.2936G>A , LRG_544t1:c.2936G>A	NP_620594.1:p.Arg979Gln
NM_139025.5:c.2936G>A	NP_620594.1:p.Arg979Gln
NM_139026.4:c.2843G>A	NP_620595.1:p.Arg948Gln
NM_139026.5:c.2843G>A	NP_620595.1:p.Arg948Gln
NM_139026.6:c.2843G>A	NP_620595.1:p.Arg948Gln
NM_139027.4:c.2936G>A	NP_620596.2:p.Arg979Gln
NM_139027.5:c.2936G>A	NP_620596.2:p.Arg979Gln
NR_024514.2:n.1771G>A
NR_024514.3:n.1773G>A
ENST00000355699.6:c.2936G>A	ENSP00000347927.2:p.Arg979Gln
ENST00000356589.6:c.2843G>A	ENSP00000348997.2:p.Arg948Gln
ENST00000371916.5:c.*405G>A	ENSP00000360984.2:n.*405G>A
ENST00000371929.7:c.2936G>A	ENSP00000360997.3:p.Arg979Gln
ENST00000485925.5:n.1752G>A
ENST00000495234.5:c.*1768G>A	ENSP00000435274.1:n.*1768G>A
XM_011518174.1:c.2546G>A	XP_011516476.1:p.Arg849Gln
XM_011518175.1:c.2936G>A	XP_011516477.1:p.Arg979Gln
XM_011518176.1:c.1952G>A	XP_011516478.1:p.Arg651Gln
XM_011518176.3:c.1952G>A	XP_011516478.1:p.Arg651Gln
XM_011518177.1:c.1946G>A	XP_011516479.1:p.Arg649Gln
XM_011518178.1:c.1601G>A	XP_011516480.1:p.Arg534Gln
XM_011518178.2:c.1601G>A	XP_011516480.1:p.Arg534Gln
XM_011518179.1:c.1601G>A	XP_011516481.1:p.Arg534Gln
XM_011518180.1:c.1202G>A	XP_011516482.1:p.Arg401Gln
XM_017014232.1:c.2924G>A	XP_016869721.1:p.Arg975Gln
XM_017014233.1:c.2546G>A	XP_016869722.1:p.Arg849Gln
XM_017014234.2:c.1946G>A	XP_016869723.1:p.Arg649Gln
XR_001746171.1:n.3709G>A