Canonical Allele Identifier: CA375391705

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436901-T-C
• MyVariant Identifiers: chr9:g.133436901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436901T>C , CM000671.2:g.133436901T>C	GRCh38
NC_000009.10:g.135291842T>C	NCBI36
NG_011934.2:g.27563T>C , LRG_544:g.27563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1381T>C MANE Select	ENSP00000347927.2:p.Ser461Pro
ENST00000355699.6:c.1381T>C	ENSP00000347927.2:p.Ser461Pro
ENST00000356589.6:c.1288T>C	ENSP00000348997.2:p.Ser430Pro
ENST00000371916.5:c.637T>C	ENSP00000360984.2:p.Ser213Pro
ENST00000371929.7:c.1381T>C	ENSP00000360997.3:p.Ser461Pro
ENST00000474918.1:c.*185T>C	ENSP00000435305.1:n.*185T>C
ENST00000485925.5:n.974-2465T>C
ENST00000495234.5:c.*665T>C	ENSP00000435274.1:n.*665T>C
NM_139025.4:c.1381T>C , LRG_544t1:c.1381T>C	NP_620594.1:p.Ser461Pro
NM_139026.4:c.1288T>C	NP_620595.1:p.Ser430Pro
NM_139027.4:c.1381T>C	NP_620596.2:p.Ser461Pro
NR_024514.2:n.993-2465T>C
XM_011518174.1:c.991T>C	XP_011516476.1:p.Ser331Pro
XM_011518175.1:c.1381T>C	XP_011516477.1:p.Ser461Pro
XM_011518176.1:c.397T>C	XP_011516478.1:p.Ser133Pro
XM_011518177.1:c.391T>C	XP_011516479.1:p.Ser131Pro
XM_011518178.1:c.46T>C	XP_011516480.1:p.Ser16Pro
XM_011518179.1:c.167T>C	XP_011516481.1:p.Leu56Pro
XM_011518180.1:c.687-7962T>C	XP_011516482.1:n.687-7962T>C
XM_011518176.3:c.397T>C	XP_011516478.1:p.Ser133Pro
XM_011518178.2:c.46T>C	XP_011516480.1:p.Ser16Pro
XM_017014232.1:c.1369T>C	XP_016869721.1:p.Ser457Pro
XM_017014233.1:c.991T>C	XP_016869722.1:p.Ser331Pro
XM_017014234.2:c.391T>C	XP_016869723.1:p.Ser131Pro
XM_017014235.1:c.1381T>C	XP_016869724.1:p.Ser461Pro
XR_001746171.1:n.2606T>C
NM_139026.5:c.1288T>C	NP_620595.1:p.Ser430Pro
NM_139027.5:c.1381T>C	NP_620596.2:p.Ser461Pro
NM_139025.5:c.1381T>C	NP_620594.1:p.Ser461Pro
NM_139026.6:c.1288T>C	NP_620595.1:p.Ser430Pro
NM_139027.6:c.1381T>C MANE Select	NP_620596.2:p.Ser461Pro
NR_024514.3:n.995-2465T>C