Canonical Allele Identifier: CA375404301

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448688A>C , CM000671.2:g.133448688A>C	GRCh38
NC_000009.10:g.135303630A>C	NCBI36
NG_011934.2:g.39350A>C , LRG_544:g.39350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2821A>C MANE Select	ENSP00000347927.2:p.Ser941Arg
ENST00000355699.6:c.2821A>C	ENSP00000347927.2:p.Ser941Arg
ENST00000356589.6:c.2728A>C	ENSP00000348997.2:p.Ser910Arg
ENST00000371916.5:c.*290A>C	ENSP00000360984.2:n.*290A>C
ENST00000371929.7:c.2821A>C	ENSP00000360997.3:p.Ser941Arg
ENST00000485925.5:n.1637A>C
ENST00000495234.5:c.*1653A>C	ENSP00000435274.1:n.*1653A>C
NM_139025.4:c.2821A>C , LRG_544t1:c.2821A>C	NP_620594.1:p.Ser941Arg
NM_139026.4:c.2728A>C	NP_620595.1:p.Ser910Arg
NM_139027.4:c.2821A>C	NP_620596.2:p.Ser941Arg
NR_024514.2:n.1656A>C
XM_011518174.1:c.2431A>C	XP_011516476.1:p.Ser811Arg
XM_011518175.1:c.2821A>C	XP_011516477.1:p.Ser941Arg
XM_011518176.1:c.1837A>C	XP_011516478.1:p.Ser613Arg
XM_011518177.1:c.1831A>C	XP_011516479.1:p.Ser611Arg
XM_011518178.1:c.1486A>C	XP_011516480.1:p.Ser496Arg
XM_011518179.1:c.1486A>C	XP_011516481.1:p.Ser496Arg
XM_011518180.1:c.1087A>C	XP_011516482.1:p.Ser363Arg
XM_011518176.3:c.1837A>C	XP_011516478.1:p.Ser613Arg
XM_011518178.2:c.1486A>C	XP_011516480.1:p.Ser496Arg
XM_017014232.1:c.2809A>C	XP_016869721.1:p.Ser937Arg
XM_017014233.1:c.2431A>C	XP_016869722.1:p.Ser811Arg
XM_017014234.2:c.1831A>C	XP_016869723.1:p.Ser611Arg
XR_001746171.1:n.3594A>C
NM_139026.5:c.2728A>C	NP_620595.1:p.Ser910Arg
NM_139027.5:c.2821A>C	NP_620596.2:p.Ser941Arg
NM_139025.5:c.2821A>C	NP_620594.1:p.Ser941Arg
NM_139026.6:c.2728A>C	NP_620595.1:p.Ser910Arg
NM_139027.6:c.2821A>C MANE Select	NP_620596.2:p.Ser941Arg
NR_024514.3:n.1658A>C