Canonical Allele Identifier: CA10633057
Community Standard Title: NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133437864G>C , CM000671.2:g.133437864G>C GRCh38
NC_000009.10:g.135292805G>C NCBI36
NG_011934.2:g.28526G>C , LRG_544:g.28526G>C

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1551G>C MANE Select NP_620596.2:p.Gly517=
ENST00000355699.7:c.1551G>C MANE Select ENSP00000347927.2:p.Gly517=
NM_139025.4:c.1551G>C , LRG_544t1:c.1551G>C NP_620594.1:p.Gly517=
NM_139025.5:c.1551G>C NP_620594.1:p.Gly517=
NM_139026.4:c.1458G>C NP_620595.1:p.Gly486=
NM_139026.5:c.1458G>C NP_620595.1:p.Gly486=
NM_139026.6:c.1458G>C NP_620595.1:p.Gly486=
NM_139027.4:c.1551G>C NP_620596.2:p.Gly517=
NM_139027.5:c.1551G>C NP_620596.2:p.Gly517=
NR_024514.2:n.993-1502G>C
NR_024514.3:n.995-1502G>C
ENST00000355699.6:c.1551G>C ENSP00000347927.2:p.Gly517=
ENST00000356589.6:c.1458G>C ENSP00000348997.2:p.Gly486=
ENST00000371916.5:c.807G>C ENSP00000360984.2:p.Gly269=
ENST00000371929.7:c.1551G>C ENSP00000360997.3:p.Gly517=
ENST00000474918.1:c.*355G>C ENSP00000435305.1:n.*355G>C
ENST00000485925.5:n.974-1502G>C
ENST00000495234.5:c.*835G>C ENSP00000435274.1:n.*835G>C
XM_011518174.1:c.1161G>C XP_011516476.1:p.Gly387=
XM_011518175.1:c.1551G>C XP_011516477.1:p.Gly517=
XM_011518176.1:c.567G>C XP_011516478.1:p.Gly189=
XM_011518176.3:c.567G>C XP_011516478.1:p.Gly189=
XM_011518177.1:c.561G>C XP_011516479.1:p.Gly187=
XM_011518178.1:c.216G>C XP_011516480.1:p.Gly72=
XM_011518178.2:c.216G>C XP_011516480.1:p.Gly72=
XM_011518179.1:c.337G>C XP_011516481.1:p.Asp113His
XM_011518180.1:c.687-6999G>C XP_011516482.1:n.687-6999G>C
XM_017014232.1:c.1539G>C XP_016869721.1:p.Gly513=
XM_017014233.1:c.1161G>C XP_016869722.1:p.Gly387=
XM_017014234.2:c.561G>C XP_016869723.1:p.Gly187=
XM_017014235.1:c.1551G>C XP_016869724.1:p.Gly517=
XR_001746171.1:n.2776G>C