Canonical Allele Identifier: CA375404694

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448721C>A , CM000671.2:g.133448721C>A	GRCh38
NC_000009.10:g.135303663C>A	NCBI36
NG_011934.2:g.39383C>A , LRG_544:g.39383C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2854C>A MANE Select	ENSP00000347927.2:p.Pro952Thr
ENST00000355699.6:c.2854C>A	ENSP00000347927.2:p.Pro952Thr
ENST00000356589.6:c.2761C>A	ENSP00000348997.2:p.Pro921Thr
ENST00000371916.5:c.*323C>A	ENSP00000360984.2:n.*323C>A
ENST00000371929.7:c.2854C>A	ENSP00000360997.3:p.Pro952Thr
ENST00000485925.5:n.1670C>A
ENST00000495234.5:c.*1686C>A	ENSP00000435274.1:n.*1686C>A
NM_139025.4:c.2854C>A , LRG_544t1:c.2854C>A	NP_620594.1:p.Pro952Thr
NM_139026.4:c.2761C>A	NP_620595.1:p.Pro921Thr
NM_139027.4:c.2854C>A	NP_620596.2:p.Pro952Thr
NR_024514.2:n.1689C>A
XM_011518174.1:c.2464C>A	XP_011516476.1:p.Pro822Thr
XM_011518175.1:c.2854C>A	XP_011516477.1:p.Pro952Thr
XM_011518176.1:c.1870C>A	XP_011516478.1:p.Pro624Thr
XM_011518177.1:c.1864C>A	XP_011516479.1:p.Pro622Thr
XM_011518178.1:c.1519C>A	XP_011516480.1:p.Pro507Thr
XM_011518179.1:c.1519C>A	XP_011516481.1:p.Pro507Thr
XM_011518180.1:c.1120C>A	XP_011516482.1:p.Pro374Thr
XM_011518176.3:c.1870C>A	XP_011516478.1:p.Pro624Thr
XM_011518178.2:c.1519C>A	XP_011516480.1:p.Pro507Thr
XM_017014232.1:c.2842C>A	XP_016869721.1:p.Pro948Thr
XM_017014233.1:c.2464C>A	XP_016869722.1:p.Pro822Thr
XM_017014234.2:c.1864C>A	XP_016869723.1:p.Pro622Thr
XR_001746171.1:n.3627C>A
NM_139026.5:c.2761C>A	NP_620595.1:p.Pro921Thr
NM_139027.5:c.2854C>A	NP_620596.2:p.Pro952Thr
NM_139025.5:c.2854C>A	NP_620594.1:p.Pro952Thr
NM_139026.6:c.2761C>A	NP_620595.1:p.Pro921Thr
NM_139027.6:c.2854C>A MANE Select	NP_620596.2:p.Pro952Thr
NR_024514.3:n.1691C>A