Canonical Allele Identifier: CA200922231

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133426242G>A , CM000671.2:g.133426242G>A	GRCh38
NC_000009.10:g.135281183G>A	NCBI36
NG_011934.2:g.16904G>A , LRG_544:g.16904G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.583G>A MANE Select	NP_620596.2:p.Val195Ile
ENST00000355699.7:c.583G>A MANE Select	ENSP00000347927.2:p.Val195Ile
NM_139025.4:c.583G>A , LRG_544t1:c.583G>A	NP_620594.1:p.Val195Ile
NM_139025.5:c.583G>A	NP_620594.1:p.Val195Ile
NM_139026.4:c.583G>A	NP_620595.1:p.Val195Ile
NM_139026.5:c.583G>A	NP_620595.1:p.Val195Ile
NM_139026.6:c.583G>A	NP_620595.1:p.Val195Ile
NM_139027.4:c.583G>A	NP_620596.2:p.Val195Ile
NM_139027.5:c.583G>A	NP_620596.2:p.Val195Ile
NR_024514.2:n.784G>A
NR_024514.3:n.786G>A
ENST00000355699.6:c.583G>A	ENSP00000347927.2:p.Val195Ile
ENST00000356589.6:c.583G>A	ENSP00000348997.2:p.Val195Ile
ENST00000371911.7:c.583G>A	ENSP00000360979.3:p.Val195Ile
ENST00000371916.5:c.-162G>A	ENSP00000360984.2:n.-162G>A
ENST00000371929.7:c.583G>A	ENSP00000360997.3:p.Val195Ile
ENST00000474918.1:c.583G>A	ENSP00000435305.1:p.Val195Ile
ENST00000485925.5:n.765G>A
ENST00000495234.5:c.583G>A	ENSP00000435274.1:p.Val195Ile
XM_011518174.1:c.193G>A	XP_011516476.1:p.Val65Ile
XM_011518175.1:c.583G>A	XP_011516477.1:p.Val195Ile
XM_011518180.1:c.583G>A	XP_011516482.1:p.Val195Ile
XM_017014232.1:c.571G>A	XP_016869721.1:p.Val191Ile
XM_017014233.1:c.193G>A	XP_016869722.1:p.Val65Ile
XM_017014234.2:c.-107G>A	XP_016869723.1:n.-107G>A
XM_017014235.1:c.583G>A	XP_016869724.1:p.Val195Ile
XR_001746171.1:n.1808G>A