Canonical Allele Identifier: CA200879055

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133422501G>A , CM000671.2:g.133422501G>A	GRCh38
NC_000009.10:g.135277442G>A	NCBI36
NG_011934.2:g.13163G>A , LRG_544:g.13163G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.58G>A MANE Select	NP_620596.2:p.Ala20Thr
ENST00000355699.7:c.58G>A MANE Select	ENSP00000347927.2:p.Ala20Thr
NM_139025.4:c.58G>A , LRG_544t1:c.58G>A	NP_620594.1:p.Ala20Thr
NM_139025.5:c.58G>A	NP_620594.1:p.Ala20Thr
NM_139026.4:c.58G>A	NP_620595.1:p.Ala20Thr
NM_139026.5:c.58G>A	NP_620595.1:p.Ala20Thr
NM_139026.6:c.58G>A	NP_620595.1:p.Ala20Thr
NM_139027.4:c.58G>A	NP_620596.2:p.Ala20Thr
NM_139027.5:c.58G>A	NP_620596.2:p.Ala20Thr
NR_024514.2:n.307-600G>A
NR_024514.3:n.309-600G>A
ENST00000355699.6:c.58G>A	ENSP00000347927.2:p.Ala20Thr
ENST00000356589.6:c.58G>A	ENSP00000348997.2:p.Ala20Thr
ENST00000371911.7:c.58G>A	ENSP00000360979.3:p.Ala20Thr
ENST00000371916.5:c.-687G>A	ENSP00000360984.2:n.-687G>A
ENST00000371929.7:c.58G>A	ENSP00000360997.3:p.Ala20Thr
ENST00000474918.1:c.58G>A	ENSP00000435305.1:p.Ala20Thr
ENST00000485925.5:n.288-600G>A
ENST00000495234.5:c.58G>A	ENSP00000435274.1:p.Ala20Thr
XM_011518174.1:c.-285-600G>A	XP_011516476.1:n.-285-600G>A
XM_011518175.1:c.58G>A	XP_011516477.1:p.Ala20Thr
XM_011518180.1:c.58G>A	XP_011516482.1:p.Ala20Thr
XM_017014232.1:c.93+523G>A	XP_016869721.1:n.93+523G>A
XM_017014233.1:c.-285-600G>A	XP_016869722.1:n.-285-600G>A
XM_017014235.1:c.58G>A	XP_016869724.1:p.Ala20Thr
XR_001746171.1:n.1283G>A