Canonical Allele Identifier: CA1882681631
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454518G= , CM000671.2:g.133454518G= GRCh38
NC_000009.10:g.135309461G= NCBI36
NG_011934.2:g.45180G= , LRG_544:g.45180G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3148G= MANE Select ENSP00000347927.2:p.Val1050=
ENST00000355699.6:c.3148G= ENSP00000347927.2:p.Val1050=
ENST00000356589.6:c.3055G= ENSP00000348997.2:p.Val1019=
ENST00000371916.5:c.*617G= ENSP00000360984.2:n.*617G=
ENST00000371929.7:c.3148G= ENSP00000360997.3:p.Val1050=
ENST00000485925.5:n.1964G=
NM_139025.4:c.3148G= , LRG_544t1:c.3148G= NP_620594.1:p.Val1050=
NM_139026.4:c.3055G= NP_620595.1:p.Val1019=
NM_139027.4:c.3148G= NP_620596.2:p.Val1050=
NR_024514.2:n.1983G=
XM_011518174.1:c.2758G= XP_011516476.1:p.Val920=
XM_011518175.1:c.3148G= XP_011516477.1:p.Val1050=
XM_011518176.1:c.2164G= XP_011516478.1:p.Val722=
XM_011518177.1:c.2158G= XP_011516479.1:p.Val720=
XM_011518178.1:c.1813G= XP_011516480.1:p.Val605=
XM_011518179.1:c.1813G= XP_011516481.1:p.Val605=
XM_011518180.1:c.1414G= XP_011516482.1:p.Val472=
XM_011518176.3:c.2164G= XP_011516478.1:p.Val722=
XM_011518178.2:c.1813G= XP_011516480.1:p.Val605=
XM_017014232.1:c.3136G= XP_016869721.1:p.Val1046=
XM_017014233.1:c.2758G= XP_016869722.1:p.Val920=
XM_017014234.2:c.2158G= XP_016869723.1:p.Val720=
NM_139026.5:c.3055G= NP_620595.1:p.Val1019=
NM_139027.5:c.3148G= NP_620596.2:p.Val1050=
NM_139025.5:c.3148G= NP_620594.1:p.Val1050=
NM_139026.6:c.3055G= NP_620595.1:p.Val1019=
NM_139027.6:c.3148G= MANE Select NP_620596.2:p.Val1050=
NR_024514.3:n.1985G=