Canonical Allele Identifier: CA375405855

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133449844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449844C>A , CM000671.2:g.133449844C>A	GRCh38
NC_000009.10:g.135304786C>A	NCBI36
NG_011934.2:g.40506C>A , LRG_544:g.40506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2923C>A MANE Select	ENSP00000347927.2:p.Leu975Met
ENST00000355699.6:c.2923C>A	ENSP00000347927.2:p.Leu975Met
ENST00000356589.6:c.2830C>A	ENSP00000348997.2:p.Leu944Met
ENST00000371916.5:c.*392C>A	ENSP00000360984.2:n.*392C>A
ENST00000371929.7:c.2923C>A	ENSP00000360997.3:p.Leu975Met
ENST00000485925.5:n.1739C>A
ENST00000495234.5:c.*1755C>A	ENSP00000435274.1:n.*1755C>A
NM_139025.4:c.2923C>A , LRG_544t1:c.2923C>A	NP_620594.1:p.Leu975Met
NM_139026.4:c.2830C>A	NP_620595.1:p.Leu944Met
NM_139027.4:c.2923C>A	NP_620596.2:p.Leu975Met
NR_024514.2:n.1758C>A
XM_011518174.1:c.2533C>A	XP_011516476.1:p.Leu845Met
XM_011518175.1:c.2923C>A	XP_011516477.1:p.Leu975Met
XM_011518176.1:c.1939C>A	XP_011516478.1:p.Leu647Met
XM_011518177.1:c.1933C>A	XP_011516479.1:p.Leu645Met
XM_011518178.1:c.1588C>A	XP_011516480.1:p.Leu530Met
XM_011518179.1:c.1588C>A	XP_011516481.1:p.Leu530Met
XM_011518180.1:c.1189C>A	XP_011516482.1:p.Leu397Met
XM_011518176.3:c.1939C>A	XP_011516478.1:p.Leu647Met
XM_011518178.2:c.1588C>A	XP_011516480.1:p.Leu530Met
XM_017014232.1:c.2911C>A	XP_016869721.1:p.Leu971Met
XM_017014233.1:c.2533C>A	XP_016869722.1:p.Leu845Met
XM_017014234.2:c.1933C>A	XP_016869723.1:p.Leu645Met
XR_001746171.1:n.3696C>A
NM_139026.5:c.2830C>A	NP_620595.1:p.Leu944Met
NM_139027.5:c.2923C>A	NP_620596.2:p.Leu975Met
NM_139025.5:c.2923C>A	NP_620594.1:p.Leu975Met
NM_139026.6:c.2830C>A	NP_620595.1:p.Leu944Met
NM_139027.6:c.2923C>A MANE Select	NP_620596.2:p.Leu975Met
NR_024514.3:n.1760C>A