Canonical Allele Identifier: CA375415174

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456141C>G , CM000671.2:g.133456141C>G	GRCh38
NC_000009.10:g.135311084C>G	NCBI36
NG_011934.2:g.46803C>G , LRG_544:g.46803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3473C>G MANE Select	ENSP00000347927.2:p.Ala1158Gly
ENST00000355699.6:c.3473C>G	ENSP00000347927.2:p.Ala1158Gly
ENST00000356589.6:c.3380C>G	ENSP00000348997.2:p.Ala1127Gly
ENST00000371910.1:c.29C>G	ENSP00000360978.1:p.Ala10Gly
ENST00000371916.5:c.*942C>G	ENSP00000360984.2:n.*942C>G
ENST00000371929.7:c.3641C>G	ENSP00000360997.3:p.Ala1214Gly
ENST00000485925.5:n.2289C>G
NM_139025.4:c.3641C>G , LRG_544t1:c.3641C>G	NP_620594.1:p.Ala1214Gly
NM_139026.4:c.3380C>G	NP_620595.1:p.Ala1127Gly
NM_139027.4:c.3473C>G	NP_620596.2:p.Ala1158Gly
NR_024514.2:n.2308C>G
XM_011518174.1:c.3251C>G	XP_011516476.1:p.Ala1084Gly
XM_011518175.1:c.*48C>G	XP_011516477.1:n.*48C>G
XM_011518176.1:c.2657C>G	XP_011516478.1:p.Ala886Gly
XM_011518177.1:c.2651C>G	XP_011516479.1:p.Ala884Gly
XM_011518178.1:c.2306C>G	XP_011516480.1:p.Ala769Gly
XM_011518179.1:c.2306C>G	XP_011516481.1:p.Ala769Gly
XM_011518180.1:c.1907C>G	XP_011516482.1:p.Ala636Gly
XM_011518176.3:c.2657C>G	XP_011516478.1:p.Ala886Gly
XM_011518178.2:c.2306C>G	XP_011516480.1:p.Ala769Gly
XM_017014232.1:c.3629C>G	XP_016869721.1:p.Ala1210Gly
XM_017014233.1:c.3251C>G	XP_016869722.1:p.Ala1084Gly
XM_017014234.2:c.2651C>G	XP_016869723.1:p.Ala884Gly
NM_139026.5:c.3380C>G	NP_620595.1:p.Ala1127Gly
NM_139027.5:c.3473C>G	NP_620596.2:p.Ala1158Gly
NM_139025.5:c.3641C>G	NP_620594.1:p.Ala1214Gly
NM_139026.6:c.3380C>G	NP_620595.1:p.Ala1127Gly
NM_139027.6:c.3473C>G MANE Select	NP_620596.2:p.Ala1158Gly
NR_024514.3:n.2310C>G