Canonical Allele Identifier: CA375404689

Gene: ADAMTS13

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2854C>G MANE Select	ENSP00000347927.2:p.Pro952Ala
ENST00000355699.6:c.2854C>G	ENSP00000347927.2:p.Pro952Ala
ENST00000356589.6:c.2761C>G	ENSP00000348997.2:p.Pro921Ala
ENST00000371916.5:c.*323C>G	ENSP00000360984.2:n.*323C>G
ENST00000371929.7:c.2854C>G	ENSP00000360997.3:p.Pro952Ala
ENST00000485925.5:n.1670C>G
ENST00000495234.5:c.*1686C>G	ENSP00000435274.1:n.*1686C>G
NM_139025.4:c.2854C>G , LRG_544t1:c.2854C>G	NP_620594.1:p.Pro952Ala
NM_139026.4:c.2761C>G	NP_620595.1:p.Pro921Ala
NM_139027.4:c.2854C>G	NP_620596.2:p.Pro952Ala
NR_024514.2:n.1689C>G
XM_011518174.1:c.2464C>G	XP_011516476.1:p.Pro822Ala
XM_011518175.1:c.2854C>G	XP_011516477.1:p.Pro952Ala
XM_011518176.1:c.1870C>G	XP_011516478.1:p.Pro624Ala
XM_011518177.1:c.1864C>G	XP_011516479.1:p.Pro622Ala
XM_011518178.1:c.1519C>G	XP_011516480.1:p.Pro507Ala
XM_011518179.1:c.1519C>G	XP_011516481.1:p.Pro507Ala
XM_011518180.1:c.1120C>G	XP_011516482.1:p.Pro374Ala
XM_011518176.3:c.1870C>G	XP_011516478.1:p.Pro624Ala
XM_011518178.2:c.1519C>G	XP_011516480.1:p.Pro507Ala
XM_017014232.1:c.2842C>G	XP_016869721.1:p.Pro948Ala
XM_017014233.1:c.2464C>G	XP_016869722.1:p.Pro822Ala
XM_017014234.2:c.1864C>G	XP_016869723.1:p.Pro622Ala
XR_001746171.1:n.3627C>G
NM_139026.5:c.2761C>G	NP_620595.1:p.Pro921Ala
NM_139027.5:c.2854C>G	NP_620596.2:p.Pro952Ala
NM_139025.5:c.2854C>G	NP_620594.1:p.Pro952Ala
NM_139026.6:c.2761C>G	NP_620595.1:p.Pro921Ala
NM_139027.6:c.2854C>G MANE Select	NP_620596.2:p.Pro952Ala
NR_024514.3:n.1691C>G