Canonical Allele Identifier: CA375410422

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454509G>A , CM000671.2:g.133454509G>A	GRCh38
NC_000009.10:g.135309452G>A	NCBI36
NG_011934.2:g.45171G>A , LRG_544:g.45171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3139G>A MANE Select	ENSP00000347927.2:p.Asp1047Asn
ENST00000355699.6:c.3139G>A	ENSP00000347927.2:p.Asp1047Asn
ENST00000356589.6:c.3046G>A	ENSP00000348997.2:p.Asp1016Asn
ENST00000371916.5:c.*608G>A	ENSP00000360984.2:n.*608G>A
ENST00000371929.7:c.3139G>A	ENSP00000360997.3:p.Asp1047Asn
ENST00000485925.5:n.1955G>A
NM_139025.4:c.3139G>A , LRG_544t1:c.3139G>A	NP_620594.1:p.Asp1047Asn
NM_139026.4:c.3046G>A	NP_620595.1:p.Asp1016Asn
NM_139027.4:c.3139G>A	NP_620596.2:p.Asp1047Asn
NR_024514.2:n.1974G>A
XM_011518174.1:c.2749G>A	XP_011516476.1:p.Asp917Asn
XM_011518175.1:c.3139G>A	XP_011516477.1:p.Asp1047Asn
XM_011518176.1:c.2155G>A	XP_011516478.1:p.Asp719Asn
XM_011518177.1:c.2149G>A	XP_011516479.1:p.Asp717Asn
XM_011518178.1:c.1804G>A	XP_011516480.1:p.Asp602Asn
XM_011518179.1:c.1804G>A	XP_011516481.1:p.Asp602Asn
XM_011518180.1:c.1405G>A	XP_011516482.1:p.Asp469Asn
XM_011518176.3:c.2155G>A	XP_011516478.1:p.Asp719Asn
XM_011518178.2:c.1804G>A	XP_011516480.1:p.Asp602Asn
XM_017014232.1:c.3127G>A	XP_016869721.1:p.Asp1043Asn
XM_017014233.1:c.2749G>A	XP_016869722.1:p.Asp917Asn
XM_017014234.2:c.2149G>A	XP_016869723.1:p.Asp717Asn
NM_139026.5:c.3046G>A	NP_620595.1:p.Asp1016Asn
NM_139027.5:c.3139G>A	NP_620596.2:p.Asp1047Asn
NM_139025.5:c.3139G>A	NP_620594.1:p.Asp1047Asn
NM_139026.6:c.3046G>A	NP_620595.1:p.Asp1016Asn
NM_139027.6:c.3139G>A MANE Select	NP_620596.2:p.Asp1047Asn
NR_024514.3:n.1976G>A