Canonical Allele Identifier: CA375410408

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454507A>T , CM000671.2:g.133454507A>T	GRCh38
NC_000009.10:g.135309450A>T	NCBI36
NG_011934.2:g.45169A>T , LRG_544:g.45169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3137A>T MANE Select	ENSP00000347927.2:p.Gln1046Leu
ENST00000355699.6:c.3137A>T	ENSP00000347927.2:p.Gln1046Leu
ENST00000356589.6:c.3044A>T	ENSP00000348997.2:p.Gln1015Leu
ENST00000371916.5:c.*606A>T	ENSP00000360984.2:n.*606A>T
ENST00000371929.7:c.3137A>T	ENSP00000360997.3:p.Gln1046Leu
ENST00000485925.5:n.1953A>T
NM_139025.4:c.3137A>T , LRG_544t1:c.3137A>T	NP_620594.1:p.Gln1046Leu
NM_139026.4:c.3044A>T	NP_620595.1:p.Gln1015Leu
NM_139027.4:c.3137A>T	NP_620596.2:p.Gln1046Leu
NR_024514.2:n.1972A>T
XM_011518174.1:c.2747A>T	XP_011516476.1:p.Gln916Leu
XM_011518175.1:c.3137A>T	XP_011516477.1:p.Gln1046Leu
XM_011518176.1:c.2153A>T	XP_011516478.1:p.Gln718Leu
XM_011518177.1:c.2147A>T	XP_011516479.1:p.Gln716Leu
XM_011518178.1:c.1802A>T	XP_011516480.1:p.Gln601Leu
XM_011518179.1:c.1802A>T	XP_011516481.1:p.Gln601Leu
XM_011518180.1:c.1403A>T	XP_011516482.1:p.Gln468Leu
XM_011518176.3:c.2153A>T	XP_011516478.1:p.Gln718Leu
XM_011518178.2:c.1802A>T	XP_011516480.1:p.Gln601Leu
XM_017014232.1:c.3125A>T	XP_016869721.1:p.Gln1042Leu
XM_017014233.1:c.2747A>T	XP_016869722.1:p.Gln916Leu
XM_017014234.2:c.2147A>T	XP_016869723.1:p.Gln716Leu
NM_139026.5:c.3044A>T	NP_620595.1:p.Gln1015Leu
NM_139027.5:c.3137A>T	NP_620596.2:p.Gln1046Leu
NM_139025.5:c.3137A>T	NP_620594.1:p.Gln1046Leu
NM_139026.6:c.3044A>T	NP_620595.1:p.Gln1015Leu
NM_139027.6:c.3137A>T MANE Select	NP_620596.2:p.Gln1046Leu
NR_024514.3:n.1974A>T