Canonical Allele Identifier: CA200943993
Community Standard Title: NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133455352C>T , CM000671.2:g.133455352C>T GRCh38
NC_000009.10:g.135310295C>T NCBI36
NG_011934.2:g.46014C>T , LRG_544:g.46014C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.3317C>T MANE Select NP_620596.2:p.Ala1106Val
ENST00000355699.7:c.3317C>T MANE Select ENSP00000347927.2:p.Ala1106Val
NM_139025.4:c.3317C>T , LRG_544t1:c.3317C>T NP_620594.1:p.Ala1106Val
NM_139025.5:c.3317C>T NP_620594.1:p.Ala1106Val
NM_139026.4:c.3224C>T NP_620595.1:p.Ala1075Val
NM_139026.5:c.3224C>T NP_620595.1:p.Ala1075Val
NM_139026.6:c.3224C>T NP_620595.1:p.Ala1075Val
NM_139027.4:c.3317C>T NP_620596.2:p.Ala1106Val
NM_139027.5:c.3317C>T NP_620596.2:p.Ala1106Val
NR_024514.2:n.2152C>T
NR_024514.3:n.2154C>T
ENST00000355699.6:c.3317C>T ENSP00000347927.2:p.Ala1106Val
ENST00000356589.6:c.3224C>T ENSP00000348997.2:p.Ala1075Val
ENST00000371916.5:c.*786C>T ENSP00000360984.2:n.*786C>T
ENST00000371929.7:c.3317C>T ENSP00000360997.3:p.Ala1106Val
ENST00000485925.5:n.2133C>T
XM_011518174.1:c.2927C>T XP_011516476.1:p.Ala976Val
XM_011518175.1:c.3317C>T XP_011516477.1:p.Ala1106Val
XM_011518176.1:c.2333C>T XP_011516478.1:p.Ala778Val
XM_011518176.3:c.2333C>T XP_011516478.1:p.Ala778Val
XM_011518177.1:c.2327C>T XP_011516479.1:p.Ala776Val
XM_011518178.1:c.1982C>T XP_011516480.1:p.Ala661Val
XM_011518178.2:c.1982C>T XP_011516480.1:p.Ala661Val
XM_011518179.1:c.1982C>T XP_011516481.1:p.Ala661Val
XM_011518180.1:c.1583C>T XP_011516482.1:p.Ala528Val
XM_017014232.1:c.3305C>T XP_016869721.1:p.Ala1102Val
XM_017014233.1:c.2927C>T XP_016869722.1:p.Ala976Val
XM_017014234.2:c.2327C>T XP_016869723.1:p.Ala776Val