Canonical Allele Identifier: CA10633054

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133429984C>T , CM000671.2:g.133429984C>T	GRCh38
NC_000009.10:g.135284925C>T	NCBI36
NG_011934.2:g.20646C>T , LRG_544:g.20646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.870C>T MANE Select	NP_620596.2:p.Pro290=
ENST00000355699.7:c.870C>T MANE Select	ENSP00000347927.2:p.Pro290=
NM_139025.4:c.870C>T , LRG_544t1:c.870C>T	NP_620594.1:p.Pro290=
NM_139025.5:c.870C>T	NP_620594.1:p.Pro290=
NM_139026.4:c.825-48C>T	NP_620595.1:n.825-48C>T
NM_139026.5:c.825-48C>T	NP_620595.1:n.825-48C>T
NM_139026.6:c.825-48C>T	NP_620595.1:n.825-48C>T
NM_139027.4:c.870C>T	NP_620596.2:p.Pro290=
NM_139027.5:c.870C>T	NP_620596.2:p.Pro290=
NR_024514.2:n.888-2604C>T
NR_024514.3:n.890-2604C>T
ENST00000355699.6:c.870C>T	ENSP00000347927.2:p.Pro290=
ENST00000356589.6:c.825-48C>T	ENSP00000348997.2:n.825-48C>T
ENST00000371916.5:c.126C>T	ENSP00000360984.2:p.Pro42=
ENST00000371929.7:c.870C>T	ENSP00000360997.3:p.Pro290=
ENST00000474918.1:c.687-2604C>T	ENSP00000435305.1:n.687-2604C>T
ENST00000485925.5:n.869-2604C>T
ENST00000495234.5:c.*74C>T	ENSP00000435274.1:n.*74C>T
XM_011518174.1:c.480C>T	XP_011516476.1:p.Pro160=
XM_011518175.1:c.870C>T	XP_011516477.1:p.Pro290=
XM_011518177.1:c.-3-2604C>T	XP_011516479.1:n.-3-2604C>T
XM_011518180.1:c.686+3639C>T	XP_011516482.1:n.686+3639C>T
XM_017014232.1:c.858C>T	XP_016869721.1:p.Pro286=
XM_017014233.1:c.480C>T	XP_016869722.1:p.Pro160=
XM_017014234.2:c.-3-2604C>T	XP_016869723.1:n.-3-2604C>T
XM_017014235.1:c.870C>T	XP_016869724.1:p.Pro290=
XR_001746171.1:n.2095C>T