Canonical Allele Identifier: CA375411222

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133455286G>A , CM000671.2:g.133455286G>A	GRCh38
NC_000009.10:g.135310229G>A	NCBI36
NG_011934.2:g.45948G>A , LRG_544:g.45948G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3251G>A MANE Select	NP_620596.2:p.Cys1084Tyr
ENST00000355699.7:c.3251G>A MANE Select	ENSP00000347927.2:p.Cys1084Tyr
NM_139025.4:c.3251G>A , LRG_544t1:c.3251G>A	NP_620594.1:p.Cys1084Tyr
NM_139025.5:c.3251G>A	NP_620594.1:p.Cys1084Tyr
NM_139026.4:c.3158G>A	NP_620595.1:p.Cys1053Tyr
NM_139026.5:c.3158G>A	NP_620595.1:p.Cys1053Tyr
NM_139026.6:c.3158G>A	NP_620595.1:p.Cys1053Tyr
NM_139027.4:c.3251G>A	NP_620596.2:p.Cys1084Tyr
NM_139027.5:c.3251G>A	NP_620596.2:p.Cys1084Tyr
NR_024514.2:n.2086G>A
NR_024514.3:n.2088G>A
ENST00000355699.6:c.3251G>A	ENSP00000347927.2:p.Cys1084Tyr
ENST00000356589.6:c.3158G>A	ENSP00000348997.2:p.Cys1053Tyr
ENST00000371916.5:c.*720G>A	ENSP00000360984.2:n.*720G>A
ENST00000371929.7:c.3251G>A	ENSP00000360997.3:p.Cys1084Tyr
ENST00000485925.5:n.2067G>A
XM_011518174.1:c.2861G>A	XP_011516476.1:p.Cys954Tyr
XM_011518175.1:c.3251G>A	XP_011516477.1:p.Cys1084Tyr
XM_011518176.1:c.2267G>A	XP_011516478.1:p.Cys756Tyr
XM_011518176.3:c.2267G>A	XP_011516478.1:p.Cys756Tyr
XM_011518177.1:c.2261G>A	XP_011516479.1:p.Cys754Tyr
XM_011518178.1:c.1916G>A	XP_011516480.1:p.Cys639Tyr
XM_011518178.2:c.1916G>A	XP_011516480.1:p.Cys639Tyr
XM_011518179.1:c.1916G>A	XP_011516481.1:p.Cys639Tyr
XM_011518180.1:c.1517G>A	XP_011516482.1:p.Cys506Tyr
XM_017014232.1:c.3239G>A	XP_016869721.1:p.Cys1080Tyr
XM_017014233.1:c.2861G>A	XP_016869722.1:p.Cys954Tyr
XM_017014234.2:c.2261G>A	XP_016869723.1:p.Cys754Tyr