Canonical Allele Identifier: CA375404632

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448719G>C , CM000671.2:g.133448719G>C	GRCh38
NC_000009.10:g.135303661G>C	NCBI36
NG_011934.2:g.39381G>C , LRG_544:g.39381G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2852G>C MANE Select	ENSP00000347927.2:p.Cys951Ser
ENST00000355699.6:c.2852G>C	ENSP00000347927.2:p.Cys951Ser
ENST00000356589.6:c.2759G>C	ENSP00000348997.2:p.Cys920Ser
ENST00000371916.5:c.*321G>C	ENSP00000360984.2:n.*321G>C
ENST00000371929.7:c.2852G>C	ENSP00000360997.3:p.Cys951Ser
ENST00000485925.5:n.1668G>C
ENST00000495234.5:c.*1684G>C	ENSP00000435274.1:n.*1684G>C
NM_139025.4:c.2852G>C , LRG_544t1:c.2852G>C	NP_620594.1:p.Cys951Ser
NM_139026.4:c.2759G>C	NP_620595.1:p.Cys920Ser
NM_139027.4:c.2852G>C	NP_620596.2:p.Cys951Ser
NR_024514.2:n.1687G>C
XM_011518174.1:c.2462G>C	XP_011516476.1:p.Cys821Ser
XM_011518175.1:c.2852G>C	XP_011516477.1:p.Cys951Ser
XM_011518176.1:c.1868G>C	XP_011516478.1:p.Cys623Ser
XM_011518177.1:c.1862G>C	XP_011516479.1:p.Cys621Ser
XM_011518178.1:c.1517G>C	XP_011516480.1:p.Cys506Ser
XM_011518179.1:c.1517G>C	XP_011516481.1:p.Cys506Ser
XM_011518180.1:c.1118G>C	XP_011516482.1:p.Cys373Ser
XM_011518176.3:c.1868G>C	XP_011516478.1:p.Cys623Ser
XM_011518178.2:c.1517G>C	XP_011516480.1:p.Cys506Ser
XM_017014232.1:c.2840G>C	XP_016869721.1:p.Cys947Ser
XM_017014233.1:c.2462G>C	XP_016869722.1:p.Cys821Ser
XM_017014234.2:c.1862G>C	XP_016869723.1:p.Cys621Ser
XR_001746171.1:n.3625G>C
NM_139026.5:c.2759G>C	NP_620595.1:p.Cys920Ser
NM_139027.5:c.2852G>C	NP_620596.2:p.Cys951Ser
NM_139025.5:c.2852G>C	NP_620594.1:p.Cys951Ser
NM_139026.6:c.2759G>C	NP_620595.1:p.Cys920Ser
NM_139027.6:c.2852G>C MANE Select	NP_620596.2:p.Cys951Ser
NR_024514.3:n.1689G>C