Canonical Allele Identifier: CA375404704

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448722C>G , CM000671.2:g.133448722C>G	GRCh38
NC_000009.10:g.135303664C>G	NCBI36
NG_011934.2:g.39384C>G , LRG_544:g.39384C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2855C>G MANE Select	ENSP00000347927.2:p.Pro952Arg
ENST00000355699.6:c.2855C>G	ENSP00000347927.2:p.Pro952Arg
ENST00000356589.6:c.2762C>G	ENSP00000348997.2:p.Pro921Arg
ENST00000371916.5:c.*324C>G	ENSP00000360984.2:n.*324C>G
ENST00000371929.7:c.2855C>G	ENSP00000360997.3:p.Pro952Arg
ENST00000485925.5:n.1671C>G
ENST00000495234.5:c.*1687C>G	ENSP00000435274.1:n.*1687C>G
NM_139025.4:c.2855C>G , LRG_544t1:c.2855C>G	NP_620594.1:p.Pro952Arg
NM_139026.4:c.2762C>G	NP_620595.1:p.Pro921Arg
NM_139027.4:c.2855C>G	NP_620596.2:p.Pro952Arg
NR_024514.2:n.1690C>G
XM_011518174.1:c.2465C>G	XP_011516476.1:p.Pro822Arg
XM_011518175.1:c.2855C>G	XP_011516477.1:p.Pro952Arg
XM_011518176.1:c.1871C>G	XP_011516478.1:p.Pro624Arg
XM_011518177.1:c.1865C>G	XP_011516479.1:p.Pro622Arg
XM_011518178.1:c.1520C>G	XP_011516480.1:p.Pro507Arg
XM_011518179.1:c.1520C>G	XP_011516481.1:p.Pro507Arg
XM_011518180.1:c.1121C>G	XP_011516482.1:p.Pro374Arg
XM_011518176.3:c.1871C>G	XP_011516478.1:p.Pro624Arg
XM_011518178.2:c.1520C>G	XP_011516480.1:p.Pro507Arg
XM_017014232.1:c.2843C>G	XP_016869721.1:p.Pro948Arg
XM_017014233.1:c.2465C>G	XP_016869722.1:p.Pro822Arg
XM_017014234.2:c.1865C>G	XP_016869723.1:p.Pro622Arg
XR_001746171.1:n.3628C>G
NM_139026.5:c.2762C>G	NP_620595.1:p.Pro921Arg
NM_139027.5:c.2855C>G	NP_620596.2:p.Pro952Arg
NM_139025.5:c.2855C>G	NP_620594.1:p.Pro952Arg
NM_139026.6:c.2762C>G	NP_620595.1:p.Pro921Arg
NM_139027.6:c.2855C>G MANE Select	NP_620596.2:p.Pro952Arg
NR_024514.3:n.1692C>G