Canonical Allele Identifier: CA375410634

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133454536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454536G>A , CM000671.2:g.133454536G>A	GRCh38
NC_000009.10:g.135309479G>A	NCBI36
NG_011934.2:g.45198G>A , LRG_544:g.45198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3166G>A MANE Select	ENSP00000347927.2:p.Ala1056Thr
ENST00000355699.6:c.3166G>A	ENSP00000347927.2:p.Ala1056Thr
ENST00000356589.6:c.3073G>A	ENSP00000348997.2:p.Ala1025Thr
ENST00000371916.5:c.*635G>A	ENSP00000360984.2:n.*635G>A
ENST00000371929.7:c.3166G>A	ENSP00000360997.3:p.Ala1056Thr
ENST00000485925.5:n.1982G>A
NM_139025.4:c.3166G>A , LRG_544t1:c.3166G>A	NP_620594.1:p.Ala1056Thr
NM_139026.4:c.3073G>A	NP_620595.1:p.Ala1025Thr
NM_139027.4:c.3166G>A	NP_620596.2:p.Ala1056Thr
NR_024514.2:n.2001G>A
XM_011518174.1:c.2776G>A	XP_011516476.1:p.Ala926Thr
XM_011518175.1:c.3166G>A	XP_011516477.1:p.Ala1056Thr
XM_011518176.1:c.2182G>A	XP_011516478.1:p.Ala728Thr
XM_011518177.1:c.2176G>A	XP_011516479.1:p.Ala726Thr
XM_011518178.1:c.1831G>A	XP_011516480.1:p.Ala611Thr
XM_011518179.1:c.1831G>A	XP_011516481.1:p.Ala611Thr
XM_011518180.1:c.1432G>A	XP_011516482.1:p.Ala478Thr
XM_011518176.3:c.2182G>A	XP_011516478.1:p.Ala728Thr
XM_011518178.2:c.1831G>A	XP_011516480.1:p.Ala611Thr
XM_017014232.1:c.3154G>A	XP_016869721.1:p.Ala1052Thr
XM_017014233.1:c.2776G>A	XP_016869722.1:p.Ala926Thr
XM_017014234.2:c.2176G>A	XP_016869723.1:p.Ala726Thr
NM_139026.5:c.3073G>A	NP_620595.1:p.Ala1025Thr
NM_139027.5:c.3166G>A	NP_620596.2:p.Ala1056Thr
NM_139025.5:c.3166G>A	NP_620594.1:p.Ala1056Thr
NM_139026.6:c.3073G>A	NP_620595.1:p.Ala1025Thr
NM_139027.6:c.3166G>A MANE Select	NP_620596.2:p.Ala1056Thr
NR_024514.3:n.2003G>A