Canonical Allele Identifier: CA117754
Gene: ADAMTS13 HGNC NCBI

Linked Data

ClinVar Variation Id: 5803
dbSNP Id: rs121908472
MyVariant Identifiers: chr9:g.133454440T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454440T>G , CM000671.2:g.133454440T>G GRCh38
NC_000009.10:g.135309383T>G NCBI36
NG_011934.2:g.45102T>G , LRG_544:g.45102T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355699.7:c.3070T>G MANE Select ENSP00000347927.2:p.Cys1024Gly
ENST00000355699.6:c.3070T>G ENSP00000347927.2:p.Cys1024Gly
ENST00000356589.6:c.2977T>G ENSP00000348997.2:p.Cys993Gly
ENST00000371916.5:c.*539T>G ENSP00000360984.2:n.*539T>G
ENST00000371929.7:c.3070T>G ENSP00000360997.3:p.Cys1024Gly
ENST00000485925.5:n.1886T>G
NM_139025.4:c.3070T>G , LRG_544t1:c.3070T>G NP_620594.1:p.Cys1024Gly
NM_139026.4:c.2977T>G NP_620595.1:p.Cys993Gly
NM_139027.4:c.3070T>G NP_620596.2:p.Cys1024Gly
NR_024514.2:n.1905T>G
XM_011518174.1:c.2680T>G XP_011516476.1:p.Cys894Gly
XM_011518175.1:c.3070T>G XP_011516477.1:p.Cys1024Gly
XM_011518176.1:c.2086T>G XP_011516478.1:p.Cys696Gly
XM_011518177.1:c.2080T>G XP_011516479.1:p.Cys694Gly
XM_011518178.1:c.1735T>G XP_011516480.1:p.Cys579Gly
XM_011518179.1:c.1735T>G XP_011516481.1:p.Cys579Gly
XM_011518180.1:c.1336T>G XP_011516482.1:p.Cys446Gly
XM_011518176.3:c.2086T>G XP_011516478.1:p.Cys696Gly
XM_011518178.2:c.1735T>G XP_011516480.1:p.Cys579Gly
XM_017014232.1:c.3058T>G XP_016869721.1:p.Cys1020Gly
XM_017014233.1:c.2680T>G XP_016869722.1:p.Cys894Gly
XM_017014234.2:c.2080T>G XP_016869723.1:p.Cys694Gly
XR_001746171.1:n.3843T>G
NM_139026.5:c.2977T>G NP_620595.1:p.Cys993Gly
NM_139027.5:c.3070T>G NP_620596.2:p.Cys1024Gly
NM_139025.5:c.3070T>G NP_620594.1:p.Cys1024Gly
NM_139026.6:c.2977T>G NP_620595.1:p.Cys993Gly
NM_139027.6:c.3070T>G MANE Select NP_620596.2:p.Cys1024Gly
NR_024514.3:n.1907T>G