Canonical Allele Identifier: CA200932529
Community Standard Title: NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133440435C>T , CM000671.2:g.133440435C>T GRCh38
NC_000009.10:g.135295377C>T NCBI36
NG_011934.2:g.31097C>T , LRG_544:g.31097C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1878C>T MANE Select NP_620596.2:p.Val626=
ENST00000355699.7:c.1878C>T MANE Select ENSP00000347927.2:p.Val626=
NM_139025.4:c.1878C>T , LRG_544t1:c.1878C>T NP_620594.1:p.Val626=
NM_139025.5:c.1878C>T NP_620594.1:p.Val626=
NM_139026.4:c.1785C>T NP_620595.1:p.Val595=
NM_139026.5:c.1785C>T NP_620595.1:p.Val595=
NM_139026.6:c.1785C>T NP_620595.1:p.Val595=
NM_139027.4:c.1878C>T NP_620596.2:p.Val626=
NM_139027.5:c.1878C>T NP_620596.2:p.Val626=
NR_024514.2:n.1165C>T
NR_024514.3:n.1167C>T
ENST00000355699.6:c.1878C>T ENSP00000347927.2:p.Val626=
ENST00000356589.6:c.1785C>T ENSP00000348997.2:p.Val595=
ENST00000371916.5:c.1134C>T ENSP00000360984.2:p.Val378=
ENST00000371929.7:c.1878C>T ENSP00000360997.3:p.Val626=
ENST00000474918.1:c.*682C>T ENSP00000435305.1:n.*682C>T
ENST00000485925.5:n.1146C>T
ENST00000495234.5:c.*1162C>T ENSP00000435274.1:n.*1162C>T
XM_011518174.1:c.1488C>T XP_011516476.1:p.Val496=
XM_011518175.1:c.1878C>T XP_011516477.1:p.Val626=
XM_011518176.1:c.894C>T XP_011516478.1:p.Val298=
XM_011518176.3:c.894C>T XP_011516478.1:p.Val298=
XM_011518177.1:c.888C>T XP_011516479.1:p.Val296=
XM_011518178.1:c.543C>T XP_011516480.1:p.Val181=
XM_011518178.2:c.543C>T XP_011516480.1:p.Val181=
XM_011518179.1:c.543C>T XP_011516481.1:p.Val181=
XM_011518180.1:c.687-4428C>T XP_011516482.1:n.687-4428C>T
XM_017014232.1:c.1866C>T XP_016869721.1:p.Val622=
XM_017014233.1:c.1488C>T XP_016869722.1:p.Val496=
XM_017014234.2:c.888C>T XP_016869723.1:p.Val296=
XM_017014235.1:c.1878C>T XP_016869724.1:p.Val626=
XR_001746171.1:n.3103C>T