Canonical Allele Identifier: CA375409905

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454417G>C , CM000671.2:g.133454417G>C	GRCh38
NC_000009.10:g.135309360G>C	NCBI36
NG_011934.2:g.45079G>C , LRG_544:g.45079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3047G>C MANE Select	ENSP00000347927.2:p.Trp1016Ser
ENST00000355699.6:c.3047G>C	ENSP00000347927.2:p.Trp1016Ser
ENST00000356589.6:c.2954G>C	ENSP00000348997.2:p.Trp985Ser
ENST00000371916.5:c.*516G>C	ENSP00000360984.2:n.*516G>C
ENST00000371929.7:c.3047G>C	ENSP00000360997.3:p.Trp1016Ser
ENST00000485925.5:n.1863G>C
NM_139025.4:c.3047G>C , LRG_544t1:c.3047G>C	NP_620594.1:p.Trp1016Ser
NM_139026.4:c.2954G>C	NP_620595.1:p.Trp985Ser
NM_139027.4:c.3047G>C	NP_620596.2:p.Trp1016Ser
NR_024514.2:n.1882G>C
XM_011518174.1:c.2657G>C	XP_011516476.1:p.Trp886Ser
XM_011518175.1:c.3047G>C	XP_011516477.1:p.Trp1016Ser
XM_011518176.1:c.2063G>C	XP_011516478.1:p.Trp688Ser
XM_011518177.1:c.2057G>C	XP_011516479.1:p.Trp686Ser
XM_011518178.1:c.1712G>C	XP_011516480.1:p.Trp571Ser
XM_011518179.1:c.1712G>C	XP_011516481.1:p.Trp571Ser
XM_011518180.1:c.1313G>C	XP_011516482.1:p.Trp438Ser
XM_011518176.3:c.2063G>C	XP_011516478.1:p.Trp688Ser
XM_011518178.2:c.1712G>C	XP_011516480.1:p.Trp571Ser
XM_017014232.1:c.3035G>C	XP_016869721.1:p.Trp1012Ser
XM_017014233.1:c.2657G>C	XP_016869722.1:p.Trp886Ser
XM_017014234.2:c.2057G>C	XP_016869723.1:p.Trp686Ser
XR_001746171.1:n.3820G>C
NM_139026.5:c.2954G>C	NP_620595.1:p.Trp985Ser
NM_139027.5:c.3047G>C	NP_620596.2:p.Trp1016Ser
NM_139025.5:c.3047G>C	NP_620594.1:p.Trp1016Ser
NM_139026.6:c.2954G>C	NP_620595.1:p.Trp985Ser
NM_139027.6:c.3047G>C MANE Select	NP_620596.2:p.Trp1016Ser
NR_024514.3:n.1884G>C