Canonical Allele Identifier: CA1882667581
Community Standard Title: NM_139027.6(ADAMTS13):c.559G= (p.Asp187=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133426218G= , CM000671.2:g.133426218G= GRCh38
NC_000009.10:g.135281159G= NCBI36
NG_011934.2:g.16880G= , LRG_544:g.16880G=

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.559G= MANE Select NP_620596.2:p.Asp187=
ENST00000355699.7:c.559G= MANE Select ENSP00000347927.2:p.Asp187=
NM_139025.4:c.559G= , LRG_544t1:c.559G= NP_620594.1:p.Asp187=
NM_139025.5:c.559G= NP_620594.1:p.Asp187=
NM_139026.4:c.559G= NP_620595.1:p.Asp187=
NM_139026.5:c.559G= NP_620595.1:p.Asp187=
NM_139026.6:c.559G= NP_620595.1:p.Asp187=
NM_139027.4:c.559G= NP_620596.2:p.Asp187=
NM_139027.5:c.559G= NP_620596.2:p.Asp187=
NR_024514.2:n.760G=
NR_024514.3:n.762G=
ENST00000355699.6:c.559G= ENSP00000347927.2:p.Asp187=
ENST00000356589.6:c.559G= ENSP00000348997.2:p.Asp187=
ENST00000371911.7:c.559G= ENSP00000360979.3:p.Asp187=
ENST00000371916.5:c.-186G= ENSP00000360984.2:n.-186G=
ENST00000371929.7:c.559G= ENSP00000360997.3:p.Asp187=
ENST00000474918.1:c.559G= ENSP00000435305.1:p.Asp187=
ENST00000485925.5:n.741G=
ENST00000495234.5:c.559G= ENSP00000435274.1:p.Asp187=
XM_011518174.1:c.169G= XP_011516476.1:p.Asp57=
XM_011518175.1:c.559G= XP_011516477.1:p.Asp187=
XM_011518180.1:c.559G= XP_011516482.1:p.Asp187=
XM_017014232.1:c.547G= XP_016869721.1:p.Asp183=
XM_017014233.1:c.169G= XP_016869722.1:p.Asp57=
XM_017014234.2:c.-131G= XP_016869723.1:n.-131G=
XM_017014235.1:c.559G= XP_016869724.1:p.Asp187=
XR_001746171.1:n.1784G=