Canonical Allele Identifier: CA375405404

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133449806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133449806G>A , CM000671.2:g.133449806G>A	GRCh38
NC_000009.10:g.135304748G>A	NCBI36
NG_011934.2:g.40468G>A , LRG_544:g.40468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2885G>A MANE Select	ENSP00000347927.2:p.Cys962Tyr
ENST00000355699.6:c.2885G>A	ENSP00000347927.2:p.Cys962Tyr
ENST00000356589.6:c.2792G>A	ENSP00000348997.2:p.Cys931Tyr
ENST00000371916.5:c.*354G>A	ENSP00000360984.2:n.*354G>A
ENST00000371929.7:c.2885G>A	ENSP00000360997.3:p.Cys962Tyr
ENST00000485925.5:n.1701G>A
ENST00000495234.5:c.*1717G>A	ENSP00000435274.1:n.*1717G>A
NM_139025.4:c.2885G>A , LRG_544t1:c.2885G>A	NP_620594.1:p.Cys962Tyr
NM_139026.4:c.2792G>A	NP_620595.1:p.Cys931Tyr
NM_139027.4:c.2885G>A	NP_620596.2:p.Cys962Tyr
NR_024514.2:n.1720G>A
XM_011518174.1:c.2495G>A	XP_011516476.1:p.Cys832Tyr
XM_011518175.1:c.2885G>A	XP_011516477.1:p.Cys962Tyr
XM_011518176.1:c.1901G>A	XP_011516478.1:p.Cys634Tyr
XM_011518177.1:c.1895G>A	XP_011516479.1:p.Cys632Tyr
XM_011518178.1:c.1550G>A	XP_011516480.1:p.Cys517Tyr
XM_011518179.1:c.1550G>A	XP_011516481.1:p.Cys517Tyr
XM_011518180.1:c.1151G>A	XP_011516482.1:p.Cys384Tyr
XM_011518176.3:c.1901G>A	XP_011516478.1:p.Cys634Tyr
XM_011518178.2:c.1550G>A	XP_011516480.1:p.Cys517Tyr
XM_017014232.1:c.2873G>A	XP_016869721.1:p.Cys958Tyr
XM_017014233.1:c.2495G>A	XP_016869722.1:p.Cys832Tyr
XM_017014234.2:c.1895G>A	XP_016869723.1:p.Cys632Tyr
XR_001746171.1:n.3658G>A
NM_139026.5:c.2792G>A	NP_620595.1:p.Cys931Tyr
NM_139027.5:c.2885G>A	NP_620596.2:p.Cys962Tyr
NM_139025.5:c.2885G>A	NP_620594.1:p.Cys962Tyr
NM_139026.6:c.2792G>A	NP_620595.1:p.Cys931Tyr
NM_139027.6:c.2885G>A MANE Select	NP_620596.2:p.Cys962Tyr
NR_024514.3:n.1722G>A