Canonical Allele Identifier: CA375391838

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436931-G-T
• MyVariant Identifiers: chr9:g.133436931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436931G>T , CM000671.2:g.133436931G>T	GRCh38
NC_000009.10:g.135291872G>T	NCBI36
NG_011934.2:g.27593G>T , LRG_544:g.27593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1411G>T MANE Select	ENSP00000347927.2:p.Gly471Cys
ENST00000355699.6:c.1411G>T	ENSP00000347927.2:p.Gly471Cys
ENST00000356589.6:c.1318G>T	ENSP00000348997.2:p.Gly440Cys
ENST00000371916.5:c.667G>T	ENSP00000360984.2:p.Gly223Cys
ENST00000371929.7:c.1411G>T	ENSP00000360997.3:p.Gly471Cys
ENST00000474918.1:c.*215G>T	ENSP00000435305.1:n.*215G>T
ENST00000485925.5:n.974-2435G>T
ENST00000495234.5:c.*695G>T	ENSP00000435274.1:n.*695G>T
NM_139025.4:c.1411G>T , LRG_544t1:c.1411G>T	NP_620594.1:p.Gly471Cys
NM_139026.4:c.1318G>T	NP_620595.1:p.Gly440Cys
NM_139027.4:c.1411G>T	NP_620596.2:p.Gly471Cys
NR_024514.2:n.993-2435G>T
XM_011518174.1:c.1021G>T	XP_011516476.1:p.Gly341Cys
XM_011518175.1:c.1411G>T	XP_011516477.1:p.Gly471Cys
XM_011518176.1:c.427G>T	XP_011516478.1:p.Gly143Cys
XM_011518177.1:c.421G>T	XP_011516479.1:p.Gly141Cys
XM_011518178.1:c.76G>T	XP_011516480.1:p.Gly26Cys
XM_011518179.1:c.197G>T	XP_011516481.1:p.Gly66Val
XM_011518180.1:c.687-7932G>T	XP_011516482.1:n.687-7932G>T
XM_011518176.3:c.427G>T	XP_011516478.1:p.Gly143Cys
XM_011518178.2:c.76G>T	XP_011516480.1:p.Gly26Cys
XM_017014232.1:c.1399G>T	XP_016869721.1:p.Gly467Cys
XM_017014233.1:c.1021G>T	XP_016869722.1:p.Gly341Cys
XM_017014234.2:c.421G>T	XP_016869723.1:p.Gly141Cys
XM_017014235.1:c.1411G>T	XP_016869724.1:p.Gly471Cys
XR_001746171.1:n.2636G>T
NM_139026.5:c.1318G>T	NP_620595.1:p.Gly440Cys
NM_139027.5:c.1411G>T	NP_620596.2:p.Gly471Cys
NM_139025.5:c.1411G>T	NP_620594.1:p.Gly471Cys
NM_139026.6:c.1318G>T	NP_620595.1:p.Gly440Cys
NM_139027.6:c.1411G>T MANE Select	NP_620596.2:p.Gly471Cys
NR_024514.3:n.995-2435G>T