Canonical Allele Identifier: CA375404698
Gene: ADAMTS13 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000355699.7:c.2855C>A MANE Select ENSP00000347927.2:p.Pro952His
ENST00000355699.6:c.2855C>A ENSP00000347927.2:p.Pro952His
ENST00000356589.6:c.2762C>A ENSP00000348997.2:p.Pro921His
ENST00000371916.5:c.*324C>A ENSP00000360984.2:n.*324C>A
ENST00000371929.7:c.2855C>A ENSP00000360997.3:p.Pro952His
ENST00000485925.5:n.1671C>A
ENST00000495234.5:c.*1687C>A ENSP00000435274.1:n.*1687C>A
NM_139025.4:c.2855C>A , LRG_544t1:c.2855C>A NP_620594.1:p.Pro952His
NM_139026.4:c.2762C>A NP_620595.1:p.Pro921His
NM_139027.4:c.2855C>A NP_620596.2:p.Pro952His
NR_024514.2:n.1690C>A
XM_011518174.1:c.2465C>A XP_011516476.1:p.Pro822His
XM_011518175.1:c.2855C>A XP_011516477.1:p.Pro952His
XM_011518176.1:c.1871C>A XP_011516478.1:p.Pro624His
XM_011518177.1:c.1865C>A XP_011516479.1:p.Pro622His
XM_011518178.1:c.1520C>A XP_011516480.1:p.Pro507His
XM_011518179.1:c.1520C>A XP_011516481.1:p.Pro507His
XM_011518180.1:c.1121C>A XP_011516482.1:p.Pro374His
XM_011518176.3:c.1871C>A XP_011516478.1:p.Pro624His
XM_011518178.2:c.1520C>A XP_011516480.1:p.Pro507His
XM_017014232.1:c.2843C>A XP_016869721.1:p.Pro948His
XM_017014233.1:c.2465C>A XP_016869722.1:p.Pro822His
XM_017014234.2:c.1865C>A XP_016869723.1:p.Pro622His
XR_001746171.1:n.3628C>A
NM_139026.5:c.2762C>A NP_620595.1:p.Pro921His
NM_139027.5:c.2855C>A NP_620596.2:p.Pro952His
NM_139025.5:c.2855C>A NP_620594.1:p.Pro952His
NM_139026.6:c.2762C>A NP_620595.1:p.Pro921His
NM_139027.6:c.2855C>A MANE Select NP_620596.2:p.Pro952His
NR_024514.3:n.1692C>A