Canonical Allele Identifier: CA2838915323

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448675A>T , CM000671.2:g.133448675A>T	GRCh38
NC_000009.10:g.135303617A>T	NCBI36
NG_011934.2:g.39337A>T , LRG_544:g.39337A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2808A>T MANE Select	ENSP00000347927.2:p.Ala936=
ENST00000355699.6:c.2808A>T	ENSP00000347927.2:p.Ala936=
ENST00000356589.6:c.2715A>T	ENSP00000348997.2:p.Ala905=
ENST00000371916.5:c.*277A>T	ENSP00000360984.2:n.*277A>T
ENST00000371929.7:c.2808A>T	ENSP00000360997.3:p.Ala936=
ENST00000485925.5:n.1624A>T
ENST00000495234.5:c.*1640A>T	ENSP00000435274.1:n.*1640A>T
NM_139025.4:c.2808A>T , LRG_544t1:c.2808A>T	NP_620594.1:p.Ala936=
NM_139026.4:c.2715A>T	NP_620595.1:p.Ala905=
NM_139027.4:c.2808A>T	NP_620596.2:p.Ala936=
NR_024514.2:n.1643A>T
XM_011518174.1:c.2418A>T	XP_011516476.1:p.Ala806=
XM_011518175.1:c.2808A>T	XP_011516477.1:p.Ala936=
XM_011518176.1:c.1824A>T	XP_011516478.1:p.Ala608=
XM_011518177.1:c.1818A>T	XP_011516479.1:p.Ala606=
XM_011518178.1:c.1473A>T	XP_011516480.1:p.Ala491=
XM_011518179.1:c.1473A>T	XP_011516481.1:p.Ala491=
XM_011518180.1:c.1074A>T	XP_011516482.1:p.Ala358=
XM_011518176.3:c.1824A>T	XP_011516478.1:p.Ala608=
XM_011518178.2:c.1473A>T	XP_011516480.1:p.Ala491=
XM_017014232.1:c.2796A>T	XP_016869721.1:p.Ala932=
XM_017014233.1:c.2418A>T	XP_016869722.1:p.Ala806=
XM_017014234.2:c.1818A>T	XP_016869723.1:p.Ala606=
XR_001746171.1:n.3581A>T
NM_139026.5:c.2715A>T	NP_620595.1:p.Ala905=
NM_139027.5:c.2808A>T	NP_620596.2:p.Ala936=
NM_139025.5:c.2808A>T	NP_620594.1:p.Ala936=
NM_139026.6:c.2715A>T	NP_620595.1:p.Ala905=
NM_139027.6:c.2808A>T MANE Select	NP_620596.2:p.Ala936=
NR_024514.3:n.1645A>T