Canonical Allele Identifier: CA200880262

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133424418C>T , CM000671.2:g.133424418C>T	GRCh38
NC_000009.10:g.135279359C>T	NCBI36
NG_011934.2:g.15080C>T , LRG_544:g.15080C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.270C>T MANE Select	NP_620596.2:p.Pro90=
ENST00000355699.7:c.270C>T MANE Select	ENSP00000347927.2:p.Pro90=
NM_139025.4:c.270C>T , LRG_544t1:c.270C>T	NP_620594.1:p.Pro90=
NM_139025.5:c.270C>T	NP_620594.1:p.Pro90=
NM_139026.4:c.270C>T	NP_620595.1:p.Pro90=
NM_139026.5:c.270C>T	NP_620595.1:p.Pro90=
NM_139026.6:c.270C>T	NP_620595.1:p.Pro90=
NM_139027.4:c.270C>T	NP_620596.2:p.Pro90=
NM_139027.5:c.270C>T	NP_620596.2:p.Pro90=
NR_024514.2:n.471C>T
NR_024514.3:n.473C>T
ENST00000355699.6:c.270C>T	ENSP00000347927.2:p.Pro90=
ENST00000356589.6:c.270C>T	ENSP00000348997.2:p.Pro90=
ENST00000371911.7:c.270C>T	ENSP00000360979.3:p.Pro90=
ENST00000371916.5:c.-475C>T	ENSP00000360984.2:n.-475C>T
ENST00000371929.7:c.270C>T	ENSP00000360997.3:p.Pro90=
ENST00000474918.1:c.270C>T	ENSP00000435305.1:p.Pro90=
ENST00000485925.5:n.452C>T
ENST00000495234.5:c.270C>T	ENSP00000435274.1:p.Pro90=
XM_011518174.1:c.-121C>T	XP_011516476.1:n.-121C>T
XM_011518175.1:c.270C>T	XP_011516477.1:p.Pro90=
XM_011518180.1:c.270C>T	XP_011516482.1:p.Pro90=
XM_017014232.1:c.258C>T	XP_016869721.1:p.Pro86=
XM_017014233.1:c.-121C>T	XP_016869722.1:n.-121C>T
XM_017014235.1:c.270C>T	XP_016869724.1:p.Pro90=
XR_001746171.1:n.1495C>T