Canonical Allele Identifier: CA375391574

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133436869G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436869G>C , CM000671.2:g.133436869G>C	GRCh38
NC_000009.10:g.135291810G>C	NCBI36
NG_011934.2:g.27531G>C , LRG_544:g.27531G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1349G>C MANE Select	ENSP00000347927.2:p.Cys450Ser
ENST00000355699.6:c.1349G>C	ENSP00000347927.2:p.Cys450Ser
ENST00000356589.6:c.1256G>C	ENSP00000348997.2:p.Cys419Ser
ENST00000371916.5:c.605G>C	ENSP00000360984.2:p.Cys202Ser
ENST00000371929.7:c.1349G>C	ENSP00000360997.3:p.Cys450Ser
ENST00000474918.1:c.*153G>C	ENSP00000435305.1:n.*153G>C
ENST00000485925.5:n.974-2497G>C
ENST00000495234.5:c.*633G>C	ENSP00000435274.1:n.*633G>C
NM_139025.4:c.1349G>C , LRG_544t1:c.1349G>C	NP_620594.1:p.Cys450Ser
NM_139026.4:c.1256G>C	NP_620595.1:p.Cys419Ser
NM_139027.4:c.1349G>C	NP_620596.2:p.Cys450Ser
NR_024514.2:n.993-2497G>C
XM_011518174.1:c.959G>C	XP_011516476.1:p.Cys320Ser
XM_011518175.1:c.1349G>C	XP_011516477.1:p.Cys450Ser
XM_011518176.1:c.365G>C	XP_011516478.1:p.Cys122Ser
XM_011518177.1:c.359G>C	XP_011516479.1:p.Cys120Ser
XM_011518178.1:c.14G>C	XP_011516480.1:p.Cys5Ser
XM_011518179.1:c.135G>C	XP_011516481.1:p.Val45=
XM_011518180.1:c.687-7994G>C	XP_011516482.1:n.687-7994G>C
XM_011518176.3:c.365G>C	XP_011516478.1:p.Cys122Ser
XM_011518178.2:c.14G>C	XP_011516480.1:p.Cys5Ser
XM_017014232.1:c.1337G>C	XP_016869721.1:p.Cys446Ser
XM_017014233.1:c.959G>C	XP_016869722.1:p.Cys320Ser
XM_017014234.2:c.359G>C	XP_016869723.1:p.Cys120Ser
XM_017014235.1:c.1349G>C	XP_016869724.1:p.Cys450Ser
XR_001746171.1:n.2574G>C
NM_139026.5:c.1256G>C	NP_620595.1:p.Cys419Ser
NM_139027.5:c.1349G>C	NP_620596.2:p.Cys450Ser
NM_139025.5:c.1349G>C	NP_620594.1:p.Cys450Ser
NM_139026.6:c.1256G>C	NP_620595.1:p.Cys419Ser
NM_139027.6:c.1349G>C MANE Select	NP_620596.2:p.Cys450Ser
NR_024514.3:n.995-2497G>C