Canonical Allele Identifier: CA375410226
Gene: ADAMTS13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133454476T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454476T>A , CM000671.2:g.133454476T>A GRCh38
NC_000009.10:g.135309419T>A NCBI36
NG_011934.2:g.45138T>A , LRG_544:g.45138T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3106T>A MANE Select ENSP00000347927.2:p.Ser1036Thr
ENST00000355699.6:c.3106T>A ENSP00000347927.2:p.Ser1036Thr
ENST00000356589.6:c.3013T>A ENSP00000348997.2:p.Ser1005Thr
ENST00000371916.5:c.*575T>A ENSP00000360984.2:n.*575T>A
ENST00000371929.7:c.3106T>A ENSP00000360997.3:p.Ser1036Thr
ENST00000485925.5:n.1922T>A
NM_139025.4:c.3106T>A , LRG_544t1:c.3106T>A NP_620594.1:p.Ser1036Thr
NM_139026.4:c.3013T>A NP_620595.1:p.Ser1005Thr
NM_139027.4:c.3106T>A NP_620596.2:p.Ser1036Thr
NR_024514.2:n.1941T>A
XM_011518174.1:c.2716T>A XP_011516476.1:p.Ser906Thr
XM_011518175.1:c.3106T>A XP_011516477.1:p.Ser1036Thr
XM_011518176.1:c.2122T>A XP_011516478.1:p.Ser708Thr
XM_011518177.1:c.2116T>A XP_011516479.1:p.Ser706Thr
XM_011518178.1:c.1771T>A XP_011516480.1:p.Ser591Thr
XM_011518179.1:c.1771T>A XP_011516481.1:p.Ser591Thr
XM_011518180.1:c.1372T>A XP_011516482.1:p.Ser458Thr
XM_011518176.3:c.2122T>A XP_011516478.1:p.Ser708Thr
XM_011518178.2:c.1771T>A XP_011516480.1:p.Ser591Thr
XM_017014232.1:c.3094T>A XP_016869721.1:p.Ser1032Thr
XM_017014233.1:c.2716T>A XP_016869722.1:p.Ser906Thr
XM_017014234.2:c.2116T>A XP_016869723.1:p.Ser706Thr
NM_139026.5:c.3013T>A NP_620595.1:p.Ser1005Thr
NM_139027.5:c.3106T>A NP_620596.2:p.Ser1036Thr
NM_139025.5:c.3106T>A NP_620594.1:p.Ser1036Thr
NM_139026.6:c.3013T>A NP_620595.1:p.Ser1005Thr
NM_139027.6:c.3106T>A MANE Select NP_620596.2:p.Ser1036Thr
NR_024514.3:n.1943T>A