Canonical Allele Identifier: CA375415271

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133456156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456156G>T , CM000671.2:g.133456156G>T	GRCh38
NC_000009.10:g.135311099G>T	NCBI36
NG_011934.2:g.46818G>T , LRG_544:g.46818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3488G>T MANE Select	ENSP00000347927.2:p.Arg1163Leu
ENST00000355699.6:c.3488G>T	ENSP00000347927.2:p.Arg1163Leu
ENST00000356589.6:c.3395G>T	ENSP00000348997.2:p.Arg1132Leu
ENST00000371910.1:c.44G>T	ENSP00000360978.1:p.Arg15Leu
ENST00000371916.5:c.*957G>T	ENSP00000360984.2:n.*957G>T
ENST00000371929.7:c.3656G>T	ENSP00000360997.3:p.Arg1219Leu
ENST00000485925.5:n.2304G>T
NM_139025.4:c.3656G>T , LRG_544t1:c.3656G>T	NP_620594.1:p.Arg1219Leu
NM_139026.4:c.3395G>T	NP_620595.1:p.Arg1132Leu
NM_139027.4:c.3488G>T	NP_620596.2:p.Arg1163Leu
NR_024514.2:n.2323G>T
XM_011518174.1:c.3266G>T	XP_011516476.1:p.Arg1089Leu
XM_011518175.1:c.*63G>T	XP_011516477.1:n.*63G>T
XM_011518176.1:c.2672G>T	XP_011516478.1:p.Arg891Leu
XM_011518177.1:c.2666G>T	XP_011516479.1:p.Arg889Leu
XM_011518178.1:c.2321G>T	XP_011516480.1:p.Arg774Leu
XM_011518179.1:c.2321G>T	XP_011516481.1:p.Arg774Leu
XM_011518180.1:c.1922G>T	XP_011516482.1:p.Arg641Leu
XM_011518176.3:c.2672G>T	XP_011516478.1:p.Arg891Leu
XM_011518178.2:c.2321G>T	XP_011516480.1:p.Arg774Leu
XM_017014232.1:c.3644G>T	XP_016869721.1:p.Arg1215Leu
XM_017014233.1:c.3266G>T	XP_016869722.1:p.Arg1089Leu
XM_017014234.2:c.2666G>T	XP_016869723.1:p.Arg889Leu
NM_139026.5:c.3395G>T	NP_620595.1:p.Arg1132Leu
NM_139027.5:c.3488G>T	NP_620596.2:p.Arg1163Leu
NM_139025.5:c.3656G>T	NP_620594.1:p.Arg1219Leu
NM_139026.6:c.3395G>T	NP_620595.1:p.Arg1132Leu
NM_139027.6:c.3488G>T MANE Select	NP_620596.2:p.Arg1163Leu
NR_024514.3:n.2325G>T