Canonical Allele Identifier: CA375410417

Gene: ADAMTS13

Linked Data

• COSMIC: COSM3905301
• MyVariant Identifiers: chr9:g.133454508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454508G>T , CM000671.2:g.133454508G>T	GRCh38
NC_000009.10:g.135309451G>T	NCBI36
NG_011934.2:g.45170G>T , LRG_544:g.45170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3138G>T MANE Select	ENSP00000347927.2:p.Gln1046His
ENST00000355699.6:c.3138G>T	ENSP00000347927.2:p.Gln1046His
ENST00000356589.6:c.3045G>T	ENSP00000348997.2:p.Gln1015His
ENST00000371916.5:c.*607G>T	ENSP00000360984.2:n.*607G>T
ENST00000371929.7:c.3138G>T	ENSP00000360997.3:p.Gln1046His
ENST00000485925.5:n.1954G>T
NM_139025.4:c.3138G>T , LRG_544t1:c.3138G>T	NP_620594.1:p.Gln1046His
NM_139026.4:c.3045G>T	NP_620595.1:p.Gln1015His
NM_139027.4:c.3138G>T	NP_620596.2:p.Gln1046His
NR_024514.2:n.1973G>T
XM_011518174.1:c.2748G>T	XP_011516476.1:p.Gln916His
XM_011518175.1:c.3138G>T	XP_011516477.1:p.Gln1046His
XM_011518176.1:c.2154G>T	XP_011516478.1:p.Gln718His
XM_011518177.1:c.2148G>T	XP_011516479.1:p.Gln716His
XM_011518178.1:c.1803G>T	XP_011516480.1:p.Gln601His
XM_011518179.1:c.1803G>T	XP_011516481.1:p.Gln601His
XM_011518180.1:c.1404G>T	XP_011516482.1:p.Gln468His
XM_011518176.3:c.2154G>T	XP_011516478.1:p.Gln718His
XM_011518178.2:c.1803G>T	XP_011516480.1:p.Gln601His
XM_017014232.1:c.3126G>T	XP_016869721.1:p.Gln1042His
XM_017014233.1:c.2748G>T	XP_016869722.1:p.Gln916His
XM_017014234.2:c.2148G>T	XP_016869723.1:p.Gln716His
NM_139026.5:c.3045G>T	NP_620595.1:p.Gln1015His
NM_139027.5:c.3138G>T	NP_620596.2:p.Gln1046His
NM_139025.5:c.3138G>T	NP_620594.1:p.Gln1046His
NM_139026.6:c.3045G>T	NP_620595.1:p.Gln1015His
NM_139027.6:c.3138G>T MANE Select	NP_620596.2:p.Gln1046His
NR_024514.3:n.1975G>T