Canonical Allele Identifier: CA375391482

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs587708651
• gnomAD v4: 9-133436850-G-A
• MyVariant Identifiers: chr9:g.133436850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436850G>A , CM000671.2:g.133436850G>A	GRCh38
NC_000009.10:g.135291791G>A	NCBI36
NG_011934.2:g.27512G>A , LRG_544:g.27512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1330G>A MANE Select	ENSP00000347927.2:p.Glu444Lys
ENST00000355699.6:c.1330G>A	ENSP00000347927.2:p.Glu444Lys
ENST00000356589.6:c.1237G>A	ENSP00000348997.2:p.Glu413Lys
ENST00000371916.5:c.586G>A	ENSP00000360984.2:p.Glu196Lys
ENST00000371929.7:c.1330G>A	ENSP00000360997.3:p.Glu444Lys
ENST00000474918.1:c.*134G>A	ENSP00000435305.1:n.*134G>A
ENST00000485925.5:n.974-2516G>A
ENST00000495234.5:c.*614G>A	ENSP00000435274.1:n.*614G>A
NM_139025.4:c.1330G>A , LRG_544t1:c.1330G>A	NP_620594.1:p.Glu444Lys
NM_139026.4:c.1237G>A	NP_620595.1:p.Glu413Lys
NM_139027.4:c.1330G>A	NP_620596.2:p.Glu444Lys
NR_024514.2:n.993-2516G>A
XM_011518174.1:c.940G>A	XP_011516476.1:p.Glu314Lys
XM_011518175.1:c.1330G>A	XP_011516477.1:p.Glu444Lys
XM_011518176.1:c.346G>A	XP_011516478.1:p.Glu116Lys
XM_011518177.1:c.340G>A	XP_011516479.1:p.Glu114Lys
XM_011518178.1:c.-6G>A	XP_011516480.1:n.-6G>A
XM_011518179.1:c.116G>A	XP_011516481.1:p.Gly39Glu
XM_011518180.1:c.687-8013G>A	XP_011516482.1:n.687-8013G>A
XM_011518176.3:c.346G>A	XP_011516478.1:p.Glu116Lys
XM_011518178.2:c.-6G>A	XP_011516480.1:n.-6G>A
XM_017014232.1:c.1318G>A	XP_016869721.1:p.Glu440Lys
XM_017014233.1:c.940G>A	XP_016869722.1:p.Glu314Lys
XM_017014234.2:c.340G>A	XP_016869723.1:p.Glu114Lys
XM_017014235.1:c.1330G>A	XP_016869724.1:p.Glu444Lys
XR_001746171.1:n.2555G>A
NM_139026.5:c.1237G>A	NP_620595.1:p.Glu413Lys
NM_139027.5:c.1330G>A	NP_620596.2:p.Glu444Lys
NM_139025.5:c.1330G>A	NP_620594.1:p.Glu444Lys
NM_139026.6:c.1237G>A	NP_620595.1:p.Glu413Lys
NM_139027.6:c.1330G>A MANE Select	NP_620596.2:p.Glu444Lys
NR_024514.3:n.995-2516G>A