Canonical Allele Identifier: CA375415038

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456122C>G , CM000671.2:g.133456122C>G	GRCh38
NC_000009.10:g.135311065C>G	NCBI36
NG_011934.2:g.46784C>G , LRG_544:g.46784C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3454C>G MANE Select	ENSP00000347927.2:p.Pro1152Ala
ENST00000355699.6:c.3454C>G	ENSP00000347927.2:p.Pro1152Ala
ENST00000356589.6:c.3361C>G	ENSP00000348997.2:p.Pro1121Ala
ENST00000371910.1:c.10C>G	ENSP00000360978.1:p.Pro4Ala
ENST00000371916.5:c.*923C>G	ENSP00000360984.2:n.*923C>G
ENST00000371929.7:c.3622C>G	ENSP00000360997.3:p.Pro1208Ala
ENST00000485925.5:n.2270C>G
NM_139025.4:c.3622C>G , LRG_544t1:c.3622C>G	NP_620594.1:p.Pro1208Ala
NM_139026.4:c.3361C>G	NP_620595.1:p.Pro1121Ala
NM_139027.4:c.3454C>G	NP_620596.2:p.Pro1152Ala
NR_024514.2:n.2289C>G
XM_011518174.1:c.3232C>G	XP_011516476.1:p.Pro1078Ala
XM_011518175.1:c.*29C>G	XP_011516477.1:n.*29C>G
XM_011518176.1:c.2638C>G	XP_011516478.1:p.Pro880Ala
XM_011518177.1:c.2632C>G	XP_011516479.1:p.Pro878Ala
XM_011518178.1:c.2287C>G	XP_011516480.1:p.Pro763Ala
XM_011518179.1:c.2287C>G	XP_011516481.1:p.Pro763Ala
XM_011518180.1:c.1888C>G	XP_011516482.1:p.Pro630Ala
XM_011518176.3:c.2638C>G	XP_011516478.1:p.Pro880Ala
XM_011518178.2:c.2287C>G	XP_011516480.1:p.Pro763Ala
XM_017014232.1:c.3610C>G	XP_016869721.1:p.Pro1204Ala
XM_017014233.1:c.3232C>G	XP_016869722.1:p.Pro1078Ala
XM_017014234.2:c.2632C>G	XP_016869723.1:p.Pro878Ala
NM_139026.5:c.3361C>G	NP_620595.1:p.Pro1121Ala
NM_139027.5:c.3454C>G	NP_620596.2:p.Pro1152Ala
NM_139025.5:c.3622C>G	NP_620594.1:p.Pro1208Ala
NM_139026.6:c.3361C>G	NP_620595.1:p.Pro1121Ala
NM_139027.6:c.3454C>G MANE Select	NP_620596.2:p.Pro1152Ala
NR_024514.3:n.2291C>G