Canonical Allele Identifier: CA375404549

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448709G>C , CM000671.2:g.133448709G>C	GRCh38
NC_000009.10:g.135303651G>C	NCBI36
NG_011934.2:g.39371G>C , LRG_544:g.39371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2842G>C MANE Select	ENSP00000347927.2:p.Ala948Pro
ENST00000355699.6:c.2842G>C	ENSP00000347927.2:p.Ala948Pro
ENST00000356589.6:c.2749G>C	ENSP00000348997.2:p.Ala917Pro
ENST00000371916.5:c.*311G>C	ENSP00000360984.2:n.*311G>C
ENST00000371929.7:c.2842G>C	ENSP00000360997.3:p.Ala948Pro
ENST00000485925.5:n.1658G>C
ENST00000495234.5:c.*1674G>C	ENSP00000435274.1:n.*1674G>C
NM_139025.4:c.2842G>C , LRG_544t1:c.2842G>C	NP_620594.1:p.Ala948Pro
NM_139026.4:c.2749G>C	NP_620595.1:p.Ala917Pro
NM_139027.4:c.2842G>C	NP_620596.2:p.Ala948Pro
NR_024514.2:n.1677G>C
XM_011518174.1:c.2452G>C	XP_011516476.1:p.Ala818Pro
XM_011518175.1:c.2842G>C	XP_011516477.1:p.Ala948Pro
XM_011518176.1:c.1858G>C	XP_011516478.1:p.Ala620Pro
XM_011518177.1:c.1852G>C	XP_011516479.1:p.Ala618Pro
XM_011518178.1:c.1507G>C	XP_011516480.1:p.Ala503Pro
XM_011518179.1:c.1507G>C	XP_011516481.1:p.Ala503Pro
XM_011518180.1:c.1108G>C	XP_011516482.1:p.Ala370Pro
XM_011518176.3:c.1858G>C	XP_011516478.1:p.Ala620Pro
XM_011518178.2:c.1507G>C	XP_011516480.1:p.Ala503Pro
XM_017014232.1:c.2830G>C	XP_016869721.1:p.Ala944Pro
XM_017014233.1:c.2452G>C	XP_016869722.1:p.Ala818Pro
XM_017014234.2:c.1852G>C	XP_016869723.1:p.Ala618Pro
XR_001746171.1:n.3615G>C
NM_139026.5:c.2749G>C	NP_620595.1:p.Ala917Pro
NM_139027.5:c.2842G>C	NP_620596.2:p.Ala948Pro
NM_139025.5:c.2842G>C	NP_620594.1:p.Ala948Pro
NM_139026.6:c.2749G>C	NP_620595.1:p.Ala917Pro
NM_139027.6:c.2842G>C MANE Select	NP_620596.2:p.Ala948Pro
NR_024514.3:n.1679G>C