Canonical Allele Identifier: CA375405301

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133449796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449796C>G , CM000671.2:g.133449796C>G	GRCh38
NC_000009.10:g.135304738C>G	NCBI36
NG_011934.2:g.40458C>G , LRG_544:g.40458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2875C>G MANE Select	ENSP00000347927.2:p.Leu959Val
ENST00000355699.6:c.2875C>G	ENSP00000347927.2:p.Leu959Val
ENST00000356589.6:c.2782C>G	ENSP00000348997.2:p.Leu928Val
ENST00000371916.5:c.*344C>G	ENSP00000360984.2:n.*344C>G
ENST00000371929.7:c.2875C>G	ENSP00000360997.3:p.Leu959Val
ENST00000485925.5:n.1691C>G
ENST00000495234.5:c.*1707C>G	ENSP00000435274.1:n.*1707C>G
NM_139025.4:c.2875C>G , LRG_544t1:c.2875C>G	NP_620594.1:p.Leu959Val
NM_139026.4:c.2782C>G	NP_620595.1:p.Leu928Val
NM_139027.4:c.2875C>G	NP_620596.2:p.Leu959Val
NR_024514.2:n.1710C>G
XM_011518174.1:c.2485C>G	XP_011516476.1:p.Leu829Val
XM_011518175.1:c.2875C>G	XP_011516477.1:p.Leu959Val
XM_011518176.1:c.1891C>G	XP_011516478.1:p.Leu631Val
XM_011518177.1:c.1885C>G	XP_011516479.1:p.Leu629Val
XM_011518178.1:c.1540C>G	XP_011516480.1:p.Leu514Val
XM_011518179.1:c.1540C>G	XP_011516481.1:p.Leu514Val
XM_011518180.1:c.1141C>G	XP_011516482.1:p.Leu381Val
XM_011518176.3:c.1891C>G	XP_011516478.1:p.Leu631Val
XM_011518178.2:c.1540C>G	XP_011516480.1:p.Leu514Val
XM_017014232.1:c.2863C>G	XP_016869721.1:p.Leu955Val
XM_017014233.1:c.2485C>G	XP_016869722.1:p.Leu829Val
XM_017014234.2:c.1885C>G	XP_016869723.1:p.Leu629Val
XR_001746171.1:n.3648C>G
NM_139026.5:c.2782C>G	NP_620595.1:p.Leu928Val
NM_139027.5:c.2875C>G	NP_620596.2:p.Leu959Val
NM_139025.5:c.2875C>G	NP_620594.1:p.Leu959Val
NM_139026.6:c.2782C>G	NP_620595.1:p.Leu928Val
NM_139027.6:c.2875C>G MANE Select	NP_620596.2:p.Leu959Val
NR_024514.3:n.1712C>G