Canonical Allele Identifier: CA200926932
Community Standard Title: NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133433454G>A , CM000671.2:g.133433454G>A GRCh38
NC_000009.10:g.135288395G>A NCBI36
NG_011934.2:g.24116G>A , LRG_544:g.24116G>A

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1169G>A MANE Select NP_620596.2:p.Trp390Ter
ENST00000355699.7:c.1169G>A MANE Select ENSP00000347927.2:p.Trp390Ter
NM_139025.4:c.1169G>A , LRG_544t1:c.1169G>A NP_620594.1:p.Trp390Ter
NM_139025.5:c.1169G>A NP_620594.1:p.Trp390Ter
NM_139026.4:c.1076G>A NP_620595.1:p.Trp359Ter
NM_139026.5:c.1076G>A NP_620595.1:p.Trp359Ter
NM_139026.6:c.1076G>A NP_620595.1:p.Trp359Ter
NM_139027.4:c.1169G>A NP_620596.2:p.Trp390Ter
NM_139027.5:c.1169G>A NP_620596.2:p.Trp390Ter
NR_024514.2:n.992+762G>A
NR_024514.3:n.994+762G>A
ENST00000355699.6:c.1169G>A ENSP00000347927.2:p.Trp390Ter
ENST00000356589.6:c.1076G>A ENSP00000348997.2:p.Trp359Ter
ENST00000371916.5:c.425G>A ENSP00000360984.2:p.Trp142Ter
ENST00000371929.7:c.1169G>A ENSP00000360997.3:p.Trp390Ter
ENST00000474918.1:c.*37G>A ENSP00000435305.1:n.*37G>A
ENST00000485925.5:n.973+762G>A
ENST00000495234.5:c.*453G>A ENSP00000435274.1:n.*453G>A
XM_011518174.1:c.779G>A XP_011516476.1:p.Trp260Ter
XM_011518175.1:c.1169G>A XP_011516477.1:p.Trp390Ter
XM_011518176.1:c.185G>A XP_011516478.1:p.Trp62Ter
XM_011518176.3:c.185G>A XP_011516478.1:p.Trp62Ter
XM_011518177.1:c.179G>A XP_011516479.1:p.Trp60Ter
XM_011518178.1:c.-103G>A XP_011516480.1:n.-103G>A
XM_011518178.2:c.-103G>A XP_011516480.1:n.-103G>A
XM_011518179.1:c.19G>A XP_011516481.1:p.Gly7Arg
XM_011518180.1:c.686+7109G>A XP_011516482.1:n.686+7109G>A
XM_017014232.1:c.1157G>A XP_016869721.1:p.Trp386Ter
XM_017014233.1:c.779G>A XP_016869722.1:p.Trp260Ter
XM_017014234.2:c.179G>A XP_016869723.1:p.Trp60Ter
XM_017014235.1:c.1169G>A XP_016869724.1:p.Trp390Ter
XR_001746171.1:n.2394G>A