Canonical Allele Identifier: CA2692361603

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454532-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454532C>A , CM000671.2:g.133454532C>A	GRCh38
NC_000009.10:g.135309475C>A	NCBI36
NG_011934.2:g.45194C>A , LRG_544:g.45194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3162C>A MANE Select	ENSP00000347927.2:p.Ala1054=
ENST00000355699.6:c.3162C>A	ENSP00000347927.2:p.Ala1054=
ENST00000356589.6:c.3069C>A	ENSP00000348997.2:p.Ala1023=
ENST00000371916.5:c.*631C>A	ENSP00000360984.2:n.*631C>A
ENST00000371929.7:c.3162C>A	ENSP00000360997.3:p.Ala1054=
ENST00000485925.5:n.1978C>A
NM_139025.4:c.3162C>A , LRG_544t1:c.3162C>A	NP_620594.1:p.Ala1054=
NM_139026.4:c.3069C>A	NP_620595.1:p.Ala1023=
NM_139027.4:c.3162C>A	NP_620596.2:p.Ala1054=
NR_024514.2:n.1997C>A
XM_011518174.1:c.2772C>A	XP_011516476.1:p.Ala924=
XM_011518175.1:c.3162C>A	XP_011516477.1:p.Ala1054=
XM_011518176.1:c.2178C>A	XP_011516478.1:p.Ala726=
XM_011518177.1:c.2172C>A	XP_011516479.1:p.Ala724=
XM_011518178.1:c.1827C>A	XP_011516480.1:p.Ala609=
XM_011518179.1:c.1827C>A	XP_011516481.1:p.Ala609=
XM_011518180.1:c.1428C>A	XP_011516482.1:p.Ala476=
XM_011518176.3:c.2178C>A	XP_011516478.1:p.Ala726=
XM_011518178.2:c.1827C>A	XP_011516480.1:p.Ala609=
XM_017014232.1:c.3150C>A	XP_016869721.1:p.Ala1050=
XM_017014233.1:c.2772C>A	XP_016869722.1:p.Ala924=
XM_017014234.2:c.2172C>A	XP_016869723.1:p.Ala724=
NM_139026.5:c.3069C>A	NP_620595.1:p.Ala1023=
NM_139027.5:c.3162C>A	NP_620596.2:p.Ala1054=
NM_139025.5:c.3162C>A	NP_620594.1:p.Ala1054=
NM_139026.6:c.3069C>A	NP_620595.1:p.Ala1023=
NM_139027.6:c.3162C>A MANE Select	NP_620596.2:p.Ala1054=
NR_024514.3:n.1999C>A