Canonical Allele Identifier: CA375403690

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448626T>G , CM000671.2:g.133448626T>G	GRCh38
NC_000009.10:g.135303568T>G	NCBI36
NG_011934.2:g.39288T>G , LRG_544:g.39288T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2759T>G MANE Select	ENSP00000347927.2:p.Met920Arg
ENST00000355699.6:c.2759T>G	ENSP00000347927.2:p.Met920Arg
ENST00000356589.6:c.2666T>G	ENSP00000348997.2:p.Met889Arg
ENST00000371916.5:c.*228T>G	ENSP00000360984.2:n.*228T>G
ENST00000371929.7:c.2759T>G	ENSP00000360997.3:p.Met920Arg
ENST00000485925.5:n.1575T>G
ENST00000495234.5:c.*1591T>G	ENSP00000435274.1:n.*1591T>G
NM_139025.4:c.2759T>G , LRG_544t1:c.2759T>G	NP_620594.1:p.Met920Arg
NM_139026.4:c.2666T>G	NP_620595.1:p.Met889Arg
NM_139027.4:c.2759T>G	NP_620596.2:p.Met920Arg
NR_024514.2:n.1594T>G
XM_011518174.1:c.2369T>G	XP_011516476.1:p.Met790Arg
XM_011518175.1:c.2759T>G	XP_011516477.1:p.Met920Arg
XM_011518176.1:c.1775T>G	XP_011516478.1:p.Met592Arg
XM_011518177.1:c.1769T>G	XP_011516479.1:p.Met590Arg
XM_011518178.1:c.1424T>G	XP_011516480.1:p.Met475Arg
XM_011518179.1:c.1424T>G	XP_011516481.1:p.Met475Arg
XM_011518180.1:c.1025T>G	XP_011516482.1:p.Met342Arg
XM_011518176.3:c.1775T>G	XP_011516478.1:p.Met592Arg
XM_011518178.2:c.1424T>G	XP_011516480.1:p.Met475Arg
XM_017014232.1:c.2747T>G	XP_016869721.1:p.Met916Arg
XM_017014233.1:c.2369T>G	XP_016869722.1:p.Met790Arg
XM_017014234.2:c.1769T>G	XP_016869723.1:p.Met590Arg
XR_001746171.1:n.3532T>G
NM_139026.5:c.2666T>G	NP_620595.1:p.Met889Arg
NM_139027.5:c.2759T>G	NP_620596.2:p.Met920Arg
NM_139025.5:c.2759T>G	NP_620594.1:p.Met920Arg
NM_139026.6:c.2666T>G	NP_620595.1:p.Met889Arg
NM_139027.6:c.2759T>G MANE Select	NP_620596.2:p.Met920Arg
NR_024514.3:n.1596T>G