Canonical Allele Identifier: CA375410019

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454431C>G , CM000671.2:g.133454431C>G	GRCh38
NC_000009.10:g.135309374C>G	NCBI36
NG_011934.2:g.45093C>G , LRG_544:g.45093C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3061C>G MANE Select	ENSP00000347927.2:p.Leu1021Val
ENST00000355699.6:c.3061C>G	ENSP00000347927.2:p.Leu1021Val
ENST00000356589.6:c.2968C>G	ENSP00000348997.2:p.Leu990Val
ENST00000371916.5:c.*530C>G	ENSP00000360984.2:n.*530C>G
ENST00000371929.7:c.3061C>G	ENSP00000360997.3:p.Leu1021Val
ENST00000485925.5:n.1877C>G
NM_139025.4:c.3061C>G , LRG_544t1:c.3061C>G	NP_620594.1:p.Leu1021Val
NM_139026.4:c.2968C>G	NP_620595.1:p.Leu990Val
NM_139027.4:c.3061C>G	NP_620596.2:p.Leu1021Val
NR_024514.2:n.1896C>G
XM_011518174.1:c.2671C>G	XP_011516476.1:p.Leu891Val
XM_011518175.1:c.3061C>G	XP_011516477.1:p.Leu1021Val
XM_011518176.1:c.2077C>G	XP_011516478.1:p.Leu693Val
XM_011518177.1:c.2071C>G	XP_011516479.1:p.Leu691Val
XM_011518178.1:c.1726C>G	XP_011516480.1:p.Leu576Val
XM_011518179.1:c.1726C>G	XP_011516481.1:p.Leu576Val
XM_011518180.1:c.1327C>G	XP_011516482.1:p.Leu443Val
XM_011518176.3:c.2077C>G	XP_011516478.1:p.Leu693Val
XM_011518178.2:c.1726C>G	XP_011516480.1:p.Leu576Val
XM_017014232.1:c.3049C>G	XP_016869721.1:p.Leu1017Val
XM_017014233.1:c.2671C>G	XP_016869722.1:p.Leu891Val
XM_017014234.2:c.2071C>G	XP_016869723.1:p.Leu691Val
XR_001746171.1:n.3834C>G
NM_139026.5:c.2968C>G	NP_620595.1:p.Leu990Val
NM_139027.5:c.3061C>G	NP_620596.2:p.Leu1021Val
NM_139025.5:c.3061C>G	NP_620594.1:p.Leu1021Val
NM_139026.6:c.2968C>G	NP_620595.1:p.Leu990Val
NM_139027.6:c.3061C>G MANE Select	NP_620596.2:p.Leu1021Val
NR_024514.3:n.1898C>G