Canonical Allele Identifier: CA200940018

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs782683498
• gnomAD v3: 9-133449813-G-C
• gnomAD v4: 9-133449813-G-C
• MyVariant Identifiers: chr9:g.133449813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449813G>C , CM000671.2:g.133449813G>C	GRCh38
NC_000009.10:g.135304755G>C	NCBI36
NG_011934.2:g.40475G>C , LRG_544:g.40475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2892G>C MANE Select	ENSP00000347927.2:p.Val964=
ENST00000355699.6:c.2892G>C	ENSP00000347927.2:p.Val964=
ENST00000356589.6:c.2799G>C	ENSP00000348997.2:p.Val933=
ENST00000371916.5:c.*361G>C	ENSP00000360984.2:n.*361G>C
ENST00000371929.7:c.2892G>C	ENSP00000360997.3:p.Val964=
ENST00000485925.5:n.1708G>C
ENST00000495234.5:c.*1724G>C	ENSP00000435274.1:n.*1724G>C
NM_139025.4:c.2892G>C , LRG_544t1:c.2892G>C	NP_620594.1:p.Val964=
NM_139026.4:c.2799G>C	NP_620595.1:p.Val933=
NM_139027.4:c.2892G>C	NP_620596.2:p.Val964=
NR_024514.2:n.1727G>C
XM_011518174.1:c.2502G>C	XP_011516476.1:p.Val834=
XM_011518175.1:c.2892G>C	XP_011516477.1:p.Val964=
XM_011518176.1:c.1908G>C	XP_011516478.1:p.Val636=
XM_011518177.1:c.1902G>C	XP_011516479.1:p.Val634=
XM_011518178.1:c.1557G>C	XP_011516480.1:p.Val519=
XM_011518179.1:c.1557G>C	XP_011516481.1:p.Val519=
XM_011518180.1:c.1158G>C	XP_011516482.1:p.Val386=
XM_011518176.3:c.1908G>C	XP_011516478.1:p.Val636=
XM_011518178.2:c.1557G>C	XP_011516480.1:p.Val519=
XM_017014232.1:c.2880G>C	XP_016869721.1:p.Val960=
XM_017014233.1:c.2502G>C	XP_016869722.1:p.Val834=
XM_017014234.2:c.1902G>C	XP_016869723.1:p.Val634=
XR_001746171.1:n.3665G>C
NM_139026.5:c.2799G>C	NP_620595.1:p.Val933=
NM_139027.5:c.2892G>C	NP_620596.2:p.Val964=
NM_139025.5:c.2892G>C	NP_620594.1:p.Val964=
NM_139026.6:c.2799G>C	NP_620595.1:p.Val933=
NM_139027.6:c.2892G>C MANE Select	NP_620596.2:p.Val964=
NR_024514.3:n.1729G>C