Canonical Allele Identifier: CA375405897

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133449847-T-C
• MyVariant Identifiers: chr9:g.133449847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449847T>C , CM000671.2:g.133449847T>C	GRCh38
NC_000009.10:g.135304789T>C	NCBI36
NG_011934.2:g.40509T>C , LRG_544:g.40509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2926T>C MANE Select	ENSP00000347927.2:p.Tyr976His
ENST00000355699.6:c.2926T>C	ENSP00000347927.2:p.Tyr976His
ENST00000356589.6:c.2833T>C	ENSP00000348997.2:p.Tyr945His
ENST00000371916.5:c.*395T>C	ENSP00000360984.2:n.*395T>C
ENST00000371929.7:c.2926T>C	ENSP00000360997.3:p.Tyr976His
ENST00000485925.5:n.1742T>C
ENST00000495234.5:c.*1758T>C	ENSP00000435274.1:n.*1758T>C
NM_139025.4:c.2926T>C , LRG_544t1:c.2926T>C	NP_620594.1:p.Tyr976His
NM_139026.4:c.2833T>C	NP_620595.1:p.Tyr945His
NM_139027.4:c.2926T>C	NP_620596.2:p.Tyr976His
NR_024514.2:n.1761T>C
XM_011518174.1:c.2536T>C	XP_011516476.1:p.Tyr846His
XM_011518175.1:c.2926T>C	XP_011516477.1:p.Tyr976His
XM_011518176.1:c.1942T>C	XP_011516478.1:p.Tyr648His
XM_011518177.1:c.1936T>C	XP_011516479.1:p.Tyr646His
XM_011518178.1:c.1591T>C	XP_011516480.1:p.Tyr531His
XM_011518179.1:c.1591T>C	XP_011516481.1:p.Tyr531His
XM_011518180.1:c.1192T>C	XP_011516482.1:p.Tyr398His
XM_011518176.3:c.1942T>C	XP_011516478.1:p.Tyr648His
XM_011518178.2:c.1591T>C	XP_011516480.1:p.Tyr531His
XM_017014232.1:c.2914T>C	XP_016869721.1:p.Tyr972His
XM_017014233.1:c.2536T>C	XP_016869722.1:p.Tyr846His
XM_017014234.2:c.1936T>C	XP_016869723.1:p.Tyr646His
XR_001746171.1:n.3699T>C
NM_139026.5:c.2833T>C	NP_620595.1:p.Tyr945His
NM_139027.5:c.2926T>C	NP_620596.2:p.Tyr976His
NM_139025.5:c.2926T>C	NP_620594.1:p.Tyr976His
NM_139026.6:c.2833T>C	NP_620595.1:p.Tyr945His
NM_139027.6:c.2926T>C MANE Select	NP_620596.2:p.Tyr976His
NR_024514.3:n.1763T>C