Canonical Allele Identifier: CA2692361597

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454529-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454529G>T , CM000671.2:g.133454529G>T	GRCh38
NC_000009.10:g.135309472G>T	NCBI36
NG_011934.2:g.45191G>T , LRG_544:g.45191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3159G>T MANE Select	ENSP00000347927.2:p.Ala1053=
ENST00000355699.6:c.3159G>T	ENSP00000347927.2:p.Ala1053=
ENST00000356589.6:c.3066G>T	ENSP00000348997.2:p.Ala1022=
ENST00000371916.5:c.*628G>T	ENSP00000360984.2:n.*628G>T
ENST00000371929.7:c.3159G>T	ENSP00000360997.3:p.Ala1053=
ENST00000485925.5:n.1975G>T
NM_139025.4:c.3159G>T , LRG_544t1:c.3159G>T	NP_620594.1:p.Ala1053=
NM_139026.4:c.3066G>T	NP_620595.1:p.Ala1022=
NM_139027.4:c.3159G>T	NP_620596.2:p.Ala1053=
NR_024514.2:n.1994G>T
XM_011518174.1:c.2769G>T	XP_011516476.1:p.Ala923=
XM_011518175.1:c.3159G>T	XP_011516477.1:p.Ala1053=
XM_011518176.1:c.2175G>T	XP_011516478.1:p.Ala725=
XM_011518177.1:c.2169G>T	XP_011516479.1:p.Ala723=
XM_011518178.1:c.1824G>T	XP_011516480.1:p.Ala608=
XM_011518179.1:c.1824G>T	XP_011516481.1:p.Ala608=
XM_011518180.1:c.1425G>T	XP_011516482.1:p.Ala475=
XM_011518176.3:c.2175G>T	XP_011516478.1:p.Ala725=
XM_011518178.2:c.1824G>T	XP_011516480.1:p.Ala608=
XM_017014232.1:c.3147G>T	XP_016869721.1:p.Ala1049=
XM_017014233.1:c.2769G>T	XP_016869722.1:p.Ala923=
XM_017014234.2:c.2169G>T	XP_016869723.1:p.Ala723=
NM_139026.5:c.3066G>T	NP_620595.1:p.Ala1022=
NM_139027.5:c.3159G>T	NP_620596.2:p.Ala1053=
NM_139025.5:c.3159G>T	NP_620594.1:p.Ala1053=
NM_139026.6:c.3066G>T	NP_620595.1:p.Ala1022=
NM_139027.6:c.3159G>T MANE Select	NP_620596.2:p.Ala1053=
NR_024514.3:n.1996G>T