Canonical Allele Identifier: CA375392177
Community Standard Title: NM_139027.6(ADAMTS13):c.1479C>G (p.Ser493Arg)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133437792C>G , CM000671.2:g.133437792C>G GRCh38
NC_000009.10:g.135292733C>G NCBI36
NG_011934.2:g.28454C>G , LRG_544:g.28454C>G

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1479C>G MANE Select NP_620596.2:p.Ser493Arg
ENST00000355699.7:c.1479C>G MANE Select ENSP00000347927.2:p.Ser493Arg
NM_139025.4:c.1479C>G , LRG_544t1:c.1479C>G NP_620594.1:p.Ser493Arg
NM_139025.5:c.1479C>G NP_620594.1:p.Ser493Arg
NM_139026.4:c.1386C>G NP_620595.1:p.Ser462Arg
NM_139026.5:c.1386C>G NP_620595.1:p.Ser462Arg
NM_139026.6:c.1386C>G NP_620595.1:p.Ser462Arg
NM_139027.4:c.1479C>G NP_620596.2:p.Ser493Arg
NM_139027.5:c.1479C>G NP_620596.2:p.Ser493Arg
NR_024514.2:n.993-1574C>G
NR_024514.3:n.995-1574C>G
ENST00000355699.6:c.1479C>G ENSP00000347927.2:p.Ser493Arg
ENST00000356589.6:c.1386C>G ENSP00000348997.2:p.Ser462Arg
ENST00000371916.5:c.735C>G ENSP00000360984.2:p.Ser245Arg
ENST00000371929.7:c.1479C>G ENSP00000360997.3:p.Ser493Arg
ENST00000474918.1:c.*283C>G ENSP00000435305.1:n.*283C>G
ENST00000485925.5:n.974-1574C>G
ENST00000495234.5:c.*763C>G ENSP00000435274.1:n.*763C>G
XM_011518174.1:c.1089C>G XP_011516476.1:p.Ser363Arg
XM_011518175.1:c.1479C>G XP_011516477.1:p.Ser493Arg
XM_011518176.1:c.495C>G XP_011516478.1:p.Ser165Arg
XM_011518176.3:c.495C>G XP_011516478.1:p.Ser165Arg
XM_011518177.1:c.489C>G XP_011516479.1:p.Ser163Arg
XM_011518178.1:c.144C>G XP_011516480.1:p.Ser48Arg
XM_011518178.2:c.144C>G XP_011516480.1:p.Ser48Arg
XM_011518179.1:c.265C>G XP_011516481.1:p.Leu89Val
XM_011518180.1:c.687-7071C>G XP_011516482.1:n.687-7071C>G
XM_017014232.1:c.1467C>G XP_016869721.1:p.Ser489Arg
XM_017014233.1:c.1089C>G XP_016869722.1:p.Ser363Arg
XM_017014234.2:c.489C>G XP_016869723.1:p.Ser163Arg
XM_017014235.1:c.1479C>G XP_016869724.1:p.Ser493Arg
XR_001746171.1:n.2704C>G