Canonical Allele Identifier: CA2579547233

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133456061-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456061C>T , CM000671.2:g.133456061C>T	GRCh38
NC_000009.10:g.135311004C>T	NCBI36
NG_011934.2:g.46723C>T , LRG_544:g.46723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3401-8C>T MANE Select	ENSP00000347927.2:n.3401-8C>T
ENST00000355699.6:c.3401-8C>T	ENSP00000347927.2:n.3401-8C>T
ENST00000356589.6:c.3308-8C>T	ENSP00000348997.2:n.3308-8C>T
ENST00000371910.1:c.-44-8C>T	ENSP00000360978.1:n.-44-8C>T
ENST00000371916.5:c.*870-8C>T	ENSP00000360984.2:n.*870-8C>T
ENST00000371929.7:c.3569-8C>T	ENSP00000360997.3:n.3569-8C>T
ENST00000485925.5:n.2217-8C>T
NM_139025.4:c.3569-8C>T , LRG_544t1:c.3569-8C>T	NP_620594.1:n.3569-8C>T
NM_139026.4:c.3308-8C>T	NP_620595.1:n.3308-8C>T
NM_139027.4:c.3401-8C>T	NP_620596.2:n.3401-8C>T
NR_024514.2:n.2236-8C>T
XM_011518174.1:c.3179-8C>T	XP_011516476.1:n.3179-8C>T
XM_011518175.1:c.3570-8C>T	XP_011516477.1:n.3570-8C>T
XM_011518176.1:c.2585-8C>T	XP_011516478.1:n.2585-8C>T
XM_011518177.1:c.2579-8C>T	XP_011516479.1:n.2579-8C>T
XM_011518178.1:c.2234-8C>T	XP_011516480.1:n.2234-8C>T
XM_011518179.1:c.2234-8C>T	XP_011516481.1:n.2234-8C>T
XM_011518180.1:c.1835-8C>T	XP_011516482.1:n.1835-8C>T
XM_011518176.3:c.2585-8C>T	XP_011516478.1:n.2585-8C>T
XM_011518178.2:c.2234-8C>T	XP_011516480.1:n.2234-8C>T
XM_017014232.1:c.3557-8C>T	XP_016869721.1:n.3557-8C>T
XM_017014233.1:c.3179-8C>T	XP_016869722.1:n.3179-8C>T
XM_017014234.2:c.2579-8C>T	XP_016869723.1:n.2579-8C>T
NM_139026.5:c.3308-8C>T	NP_620595.1:n.3308-8C>T
NM_139027.5:c.3401-8C>T	NP_620596.2:n.3401-8C>T
NM_139025.5:c.3569-8C>T	NP_620594.1:n.3569-8C>T
NM_139026.6:c.3308-8C>T	NP_620595.1:n.3308-8C>T
NM_139027.6:c.3401-8C>T MANE Select	NP_620596.2:n.3401-8C>T
NR_024514.3:n.2238-8C>T