Canonical Allele Identifier: CA10629384

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 365531
• ClinVar RCV Id: RCV000289469 ; RCV001653751
• dbSNP Id: rs34265876
• gnomAD v3: 9-133422087-T-C
• gnomAD v4: 9-133422087-T-C
• MyVariant Identifiers: chr9:g.133422087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133422087T>C , CM000671.2:g.133422087T>C	GRCh38
NC_000009.10:g.135277028T>C	NCBI36
NG_011934.2:g.12749T>C , LRG_544:g.12749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371916.5:c.-1101T>C	ENSP00000360984.2:n.-1101T>C
ENST00000371929.7:c.-357T>C	ENSP00000360997.3:n.-357T>C
ENST00000485925.5:n.288-1014T>C
NM_139025.4:c.-357T>C , LRG_544t1:c.-357T>C	NP_620594.1:n.-357T>C
NM_139026.4:c.-357T>C	NP_620595.1:n.-357T>C
NM_139027.4:c.-357T>C	NP_620596.2:n.-357T>C
NR_024514.2:n.307-1014T>C
XM_011518174.1:c.-285-1014T>C	XP_011516476.1:n.-285-1014T>C
XM_011518175.1:c.-357T>C	XP_011516477.1:n.-357T>C
XM_011518180.1:c.-357T>C	XP_011516482.1:n.-357T>C
XM_017014232.1:c.93+109T>C	XP_016869721.1:n.93+109T>C
XM_017014233.1:c.-285-1014T>C	XP_016869722.1:n.-285-1014T>C
XM_017014235.1:c.-357T>C	XP_016869724.1:n.-357T>C
XR_001746171.1:n.869T>C
NR_024514.3:n.309-1014T>C