Canonical Allele Identifier: CA375404271

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448683C>T , CM000671.2:g.133448683C>T	GRCh38
NC_000009.10:g.135303625C>T	NCBI36
NG_011934.2:g.39345C>T , LRG_544:g.39345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2816C>T MANE Select	ENSP00000347927.2:p.Pro939Leu
ENST00000355699.6:c.2816C>T	ENSP00000347927.2:p.Pro939Leu
ENST00000356589.6:c.2723C>T	ENSP00000348997.2:p.Pro908Leu
ENST00000371916.5:c.*285C>T	ENSP00000360984.2:n.*285C>T
ENST00000371929.7:c.2816C>T	ENSP00000360997.3:p.Pro939Leu
ENST00000485925.5:n.1632C>T
ENST00000495234.5:c.*1648C>T	ENSP00000435274.1:n.*1648C>T
NM_139025.4:c.2816C>T , LRG_544t1:c.2816C>T	NP_620594.1:p.Pro939Leu
NM_139026.4:c.2723C>T	NP_620595.1:p.Pro908Leu
NM_139027.4:c.2816C>T	NP_620596.2:p.Pro939Leu
NR_024514.2:n.1651C>T
XM_011518174.1:c.2426C>T	XP_011516476.1:p.Pro809Leu
XM_011518175.1:c.2816C>T	XP_011516477.1:p.Pro939Leu
XM_011518176.1:c.1832C>T	XP_011516478.1:p.Pro611Leu
XM_011518177.1:c.1826C>T	XP_011516479.1:p.Pro609Leu
XM_011518178.1:c.1481C>T	XP_011516480.1:p.Pro494Leu
XM_011518179.1:c.1481C>T	XP_011516481.1:p.Pro494Leu
XM_011518180.1:c.1082C>T	XP_011516482.1:p.Pro361Leu
XM_011518176.3:c.1832C>T	XP_011516478.1:p.Pro611Leu
XM_011518178.2:c.1481C>T	XP_011516480.1:p.Pro494Leu
XM_017014232.1:c.2804C>T	XP_016869721.1:p.Pro935Leu
XM_017014233.1:c.2426C>T	XP_016869722.1:p.Pro809Leu
XM_017014234.2:c.1826C>T	XP_016869723.1:p.Pro609Leu
XR_001746171.1:n.3589C>T
NM_139026.5:c.2723C>T	NP_620595.1:p.Pro908Leu
NM_139027.5:c.2816C>T	NP_620596.2:p.Pro939Leu
NM_139025.5:c.2816C>T	NP_620594.1:p.Pro939Leu
NM_139026.6:c.2723C>T	NP_620595.1:p.Pro908Leu
NM_139027.6:c.2816C>T MANE Select	NP_620596.2:p.Pro939Leu
NR_024514.3:n.1653C>T