Canonical Allele Identifier: CA10587028

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 262452
• ClinVar RCV Id: RCV000251872 ; RCV000297875 ; RCV001698663
• dbSNP Id: rs34054981
• gnomAD v3: 9-133426241-C-T
• gnomAD v4: 9-133426241-C-T
• COSMIC: COSM4163491 ; COSM4163492
• MyVariant Identifiers: chr9:g.133426241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133426241C>T , CM000671.2:g.133426241C>T	GRCh38
NC_000009.10:g.135281182C>T	NCBI36
NG_011934.2:g.16903C>T , LRG_544:g.16903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.582C>T MANE Select	ENSP00000347927.2:p.Gly194=
ENST00000355699.6:c.582C>T	ENSP00000347927.2:p.Gly194=
ENST00000356589.6:c.582C>T	ENSP00000348997.2:p.Gly194=
ENST00000371911.7:c.582C>T	ENSP00000360979.3:p.Gly194=
ENST00000371916.5:c.-163C>T	ENSP00000360984.2:n.-163C>T
ENST00000371929.7:c.582C>T	ENSP00000360997.3:p.Gly194=
ENST00000474918.1:c.582C>T	ENSP00000435305.1:p.Gly194=
ENST00000485925.5:n.764C>T
ENST00000495234.5:c.582C>T	ENSP00000435274.1:p.Gly194=
NM_139025.4:c.582C>T , LRG_544t1:c.582C>T	NP_620594.1:p.Gly194=
NM_139026.4:c.582C>T	NP_620595.1:p.Gly194=
NM_139027.4:c.582C>T	NP_620596.2:p.Gly194=
NR_024514.2:n.783C>T
XM_011518174.1:c.192C>T	XP_011516476.1:p.Gly64=
XM_011518175.1:c.582C>T	XP_011516477.1:p.Gly194=
XM_011518180.1:c.582C>T	XP_011516482.1:p.Gly194=
XM_017014232.1:c.570C>T	XP_016869721.1:p.Gly190=
XM_017014233.1:c.192C>T	XP_016869722.1:p.Gly64=
XM_017014234.2:c.-108C>T	XP_016869723.1:n.-108C>T
XM_017014235.1:c.582C>T	XP_016869724.1:p.Gly194=
XR_001746171.1:n.1807C>T
NM_139026.5:c.582C>T	NP_620595.1:p.Gly194=
NM_139027.5:c.582C>T	NP_620596.2:p.Gly194=
NM_139025.5:c.582C>T	NP_620594.1:p.Gly194=
NM_139026.6:c.582C>T	NP_620595.1:p.Gly194=
NM_139027.6:c.582C>T MANE Select	NP_620596.2:p.Gly194=
NR_024514.3:n.785C>T