Canonical Allele Identifier: CA200926852

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133433394G>A , CM000671.2:g.133433394G>A	GRCh38
NC_000009.10:g.135288335G>A	NCBI36
NG_011934.2:g.24056G>A , LRG_544:g.24056G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1109G>A MANE Select	NP_620596.2:p.Arg370His
ENST00000355699.7:c.1109G>A MANE Select	ENSP00000347927.2:p.Arg370His
NM_139025.4:c.1109G>A , LRG_544t1:c.1109G>A	NP_620594.1:p.Arg370His
NM_139025.5:c.1109G>A	NP_620594.1:p.Arg370His
NM_139026.4:c.1016G>A	NP_620595.1:p.Arg339His
NM_139026.5:c.1016G>A	NP_620595.1:p.Arg339His
NM_139026.6:c.1016G>A	NP_620595.1:p.Arg339His
NM_139027.4:c.1109G>A	NP_620596.2:p.Arg370His
NM_139027.5:c.1109G>A	NP_620596.2:p.Arg370His
NR_024514.2:n.992+702G>A
NR_024514.3:n.994+702G>A
ENST00000355699.6:c.1109G>A	ENSP00000347927.2:p.Arg370His
ENST00000356589.6:c.1016G>A	ENSP00000348997.2:p.Arg339His
ENST00000371916.5:c.365G>A	ENSP00000360984.2:p.Arg122His
ENST00000371929.7:c.1109G>A	ENSP00000360997.3:p.Arg370His
ENST00000474918.1:c.808G>A	ENSP00000435305.1:p.Ala270Thr
ENST00000485925.5:n.973+702G>A
ENST00000495234.5:c.*393G>A	ENSP00000435274.1:n.*393G>A
XM_011518174.1:c.719G>A	XP_011516476.1:p.Arg240His
XM_011518175.1:c.1109G>A	XP_011516477.1:p.Arg370His
XM_011518176.1:c.125G>A	XP_011516478.1:p.Arg42His
XM_011518176.3:c.125G>A	XP_011516478.1:p.Arg42His
XM_011518177.1:c.119G>A	XP_011516479.1:p.Arg40His
XM_011518179.1:c.-42G>A	XP_011516481.1:n.-42G>A
XM_011518180.1:c.686+7049G>A	XP_011516482.1:n.686+7049G>A
XM_017014232.1:c.1097G>A	XP_016869721.1:p.Arg366His
XM_017014233.1:c.719G>A	XP_016869722.1:p.Arg240His
XM_017014234.2:c.119G>A	XP_016869723.1:p.Arg40His
XM_017014235.1:c.1109G>A	XP_016869724.1:p.Arg370His
XR_001746171.1:n.2334G>A