Canonical Allele Identifier: CA200939153

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 2139046
• ClinVar RCV Id: RCV003066493
• dbSNP Id: rs143568784
• gnomAD v3: 9-133448721-C-T
• gnomAD v4: 9-133448721-C-T
• MyVariant Identifiers: chr9:g.133448721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448721C>T , CM000671.2:g.133448721C>T	GRCh38
NC_000009.10:g.135303663C>T	NCBI36
NG_011934.2:g.39383C>T , LRG_544:g.39383C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2854C>T MANE Select	ENSP00000347927.2:p.Pro952Ser
ENST00000355699.6:c.2854C>T	ENSP00000347927.2:p.Pro952Ser
ENST00000356589.6:c.2761C>T	ENSP00000348997.2:p.Pro921Ser
ENST00000371916.5:c.*323C>T	ENSP00000360984.2:n.*323C>T
ENST00000371929.7:c.2854C>T	ENSP00000360997.3:p.Pro952Ser
ENST00000485925.5:n.1670C>T
ENST00000495234.5:c.*1686C>T	ENSP00000435274.1:n.*1686C>T
NM_139025.4:c.2854C>T , LRG_544t1:c.2854C>T	NP_620594.1:p.Pro952Ser
NM_139026.4:c.2761C>T	NP_620595.1:p.Pro921Ser
NM_139027.4:c.2854C>T	NP_620596.2:p.Pro952Ser
NR_024514.2:n.1689C>T
XM_011518174.1:c.2464C>T	XP_011516476.1:p.Pro822Ser
XM_011518175.1:c.2854C>T	XP_011516477.1:p.Pro952Ser
XM_011518176.1:c.1870C>T	XP_011516478.1:p.Pro624Ser
XM_011518177.1:c.1864C>T	XP_011516479.1:p.Pro622Ser
XM_011518178.1:c.1519C>T	XP_011516480.1:p.Pro507Ser
XM_011518179.1:c.1519C>T	XP_011516481.1:p.Pro507Ser
XM_011518180.1:c.1120C>T	XP_011516482.1:p.Pro374Ser
XM_011518176.3:c.1870C>T	XP_011516478.1:p.Pro624Ser
XM_011518178.2:c.1519C>T	XP_011516480.1:p.Pro507Ser
XM_017014232.1:c.2842C>T	XP_016869721.1:p.Pro948Ser
XM_017014233.1:c.2464C>T	XP_016869722.1:p.Pro822Ser
XM_017014234.2:c.1864C>T	XP_016869723.1:p.Pro622Ser
XR_001746171.1:n.3627C>T
NM_139026.5:c.2761C>T	NP_620595.1:p.Pro921Ser
NM_139027.5:c.2854C>T	NP_620596.2:p.Pro952Ser
NM_139025.5:c.2854C>T	NP_620594.1:p.Pro952Ser
NM_139026.6:c.2761C>T	NP_620595.1:p.Pro921Ser
NM_139027.6:c.2854C>T MANE Select	NP_620596.2:p.Pro952Ser
NR_024514.3:n.1691C>T