Canonical Allele Identifier: CA375410700

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454555A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454555A>G , CM000671.2:g.133454555A>G	GRCh38
NC_000009.10:g.135309498A>G	NCBI36
NG_011934.2:g.45217A>G , LRG_544:g.45217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3185A>G MANE Select	ENSP00000347927.2:p.Glu1062Gly
ENST00000355699.6:c.3185A>G	ENSP00000347927.2:p.Glu1062Gly
ENST00000356589.6:c.3092A>G	ENSP00000348997.2:p.Glu1031Gly
ENST00000371916.5:c.*654A>G	ENSP00000360984.2:n.*654A>G
ENST00000371929.7:c.3185A>G	ENSP00000360997.3:p.Glu1062Gly
ENST00000485925.5:n.2001A>G
NM_139025.4:c.3185A>G , LRG_544t1:c.3185A>G	NP_620594.1:p.Glu1062Gly
NM_139026.4:c.3092A>G	NP_620595.1:p.Glu1031Gly
NM_139027.4:c.3185A>G	NP_620596.2:p.Glu1062Gly
NR_024514.2:n.2020A>G
XM_011518174.1:c.2795A>G	XP_011516476.1:p.Glu932Gly
XM_011518175.1:c.3185A>G	XP_011516477.1:p.Glu1062Gly
XM_011518176.1:c.2201A>G	XP_011516478.1:p.Glu734Gly
XM_011518177.1:c.2195A>G	XP_011516479.1:p.Glu732Gly
XM_011518178.1:c.1850A>G	XP_011516480.1:p.Glu617Gly
XM_011518179.1:c.1850A>G	XP_011516481.1:p.Glu617Gly
XM_011518180.1:c.1451A>G	XP_011516482.1:p.Glu484Gly
XM_011518176.3:c.2201A>G	XP_011516478.1:p.Glu734Gly
XM_011518178.2:c.1850A>G	XP_011516480.1:p.Glu617Gly
XM_017014232.1:c.3173A>G	XP_016869721.1:p.Glu1058Gly
XM_017014233.1:c.2795A>G	XP_016869722.1:p.Glu932Gly
XM_017014234.2:c.2195A>G	XP_016869723.1:p.Glu732Gly
NM_139026.5:c.3092A>G	NP_620595.1:p.Glu1031Gly
NM_139027.5:c.3185A>G	NP_620596.2:p.Glu1062Gly
NM_139025.5:c.3185A>G	NP_620594.1:p.Glu1062Gly
NM_139026.6:c.3092A>G	NP_620595.1:p.Glu1031Gly
NM_139027.6:c.3185A>G MANE Select	NP_620596.2:p.Glu1062Gly
NR_024514.3:n.2022A>G