Canonical Allele Identifier: CA1882681642
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454532C= , CM000671.2:g.133454532C= GRCh38
NC_000009.10:g.135309475C= NCBI36
NG_011934.2:g.45194C= , LRG_544:g.45194C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3162C= MANE Select ENSP00000347927.2:p.Ala1054=
ENST00000355699.6:c.3162C= ENSP00000347927.2:p.Ala1054=
ENST00000356589.6:c.3069C= ENSP00000348997.2:p.Ala1023=
ENST00000371916.5:c.*631C= ENSP00000360984.2:n.*631C=
ENST00000371929.7:c.3162C= ENSP00000360997.3:p.Ala1054=
ENST00000485925.5:n.1978C=
NM_139025.4:c.3162C= , LRG_544t1:c.3162C= NP_620594.1:p.Ala1054=
NM_139026.4:c.3069C= NP_620595.1:p.Ala1023=
NM_139027.4:c.3162C= NP_620596.2:p.Ala1054=
NR_024514.2:n.1997C=
XM_011518174.1:c.2772C= XP_011516476.1:p.Ala924=
XM_011518175.1:c.3162C= XP_011516477.1:p.Ala1054=
XM_011518176.1:c.2178C= XP_011516478.1:p.Ala726=
XM_011518177.1:c.2172C= XP_011516479.1:p.Ala724=
XM_011518178.1:c.1827C= XP_011516480.1:p.Ala609=
XM_011518179.1:c.1827C= XP_011516481.1:p.Ala609=
XM_011518180.1:c.1428C= XP_011516482.1:p.Ala476=
XM_011518176.3:c.2178C= XP_011516478.1:p.Ala726=
XM_011518178.2:c.1827C= XP_011516480.1:p.Ala609=
XM_017014232.1:c.3150C= XP_016869721.1:p.Ala1050=
XM_017014233.1:c.2772C= XP_016869722.1:p.Ala924=
XM_017014234.2:c.2172C= XP_016869723.1:p.Ala724=
NM_139026.5:c.3069C= NP_620595.1:p.Ala1023=
NM_139027.5:c.3162C= NP_620596.2:p.Ala1054=
NM_139025.5:c.3162C= NP_620594.1:p.Ala1054=
NM_139026.6:c.3069C= NP_620595.1:p.Ala1023=
NM_139027.6:c.3162C= MANE Select NP_620596.2:p.Ala1054=
NR_024514.3:n.1999C=