Canonical Allele Identifier: CA200880293

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133424453G>A , CM000671.2:g.133424453G>A	GRCh38
NC_000009.10:g.135279394G>A	NCBI36
NG_011934.2:g.15115G>A , LRG_544:g.15115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.305G>A MANE Select	NP_620596.2:p.Arg102His
ENST00000355699.7:c.305G>A MANE Select	ENSP00000347927.2:p.Arg102His
NM_139025.4:c.305G>A , LRG_544t1:c.305G>A	NP_620594.1:p.Arg102His
NM_139025.5:c.305G>A	NP_620594.1:p.Arg102His
NM_139026.4:c.305G>A	NP_620595.1:p.Arg102His
NM_139026.5:c.305G>A	NP_620595.1:p.Arg102His
NM_139026.6:c.305G>A	NP_620595.1:p.Arg102His
NM_139027.4:c.305G>A	NP_620596.2:p.Arg102His
NM_139027.5:c.305G>A	NP_620596.2:p.Arg102His
NR_024514.2:n.506G>A
NR_024514.3:n.508G>A
ENST00000355699.6:c.305G>A	ENSP00000347927.2:p.Arg102His
ENST00000356589.6:c.305G>A	ENSP00000348997.2:p.Arg102His
ENST00000371911.7:c.305G>A	ENSP00000360979.3:p.Arg102His
ENST00000371916.5:c.-440G>A	ENSP00000360984.2:n.-440G>A
ENST00000371929.7:c.305G>A	ENSP00000360997.3:p.Arg102His
ENST00000474918.1:c.305G>A	ENSP00000435305.1:p.Arg102His
ENST00000485925.5:n.487G>A
ENST00000495234.5:c.305G>A	ENSP00000435274.1:p.Arg102His
XM_011518174.1:c.-86G>A	XP_011516476.1:n.-86G>A
XM_011518175.1:c.305G>A	XP_011516477.1:p.Arg102His
XM_011518180.1:c.305G>A	XP_011516482.1:p.Arg102His
XM_017014232.1:c.293G>A	XP_016869721.1:p.Arg98His
XM_017014233.1:c.-86G>A	XP_016869722.1:n.-86G>A
XM_017014235.1:c.305G>A	XP_016869724.1:p.Arg102His
XR_001746171.1:n.1530G>A