Canonical Allele Identifier: CA375415300

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133456161-C-T
• MyVariant Identifiers: chr9:g.133456161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456161C>T , CM000671.2:g.133456161C>T	GRCh38
NC_000009.10:g.135311104C>T	NCBI36
NG_011934.2:g.46823C>T , LRG_544:g.46823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3493C>T MANE Select	ENSP00000347927.2:p.Leu1165Phe
ENST00000355699.6:c.3493C>T	ENSP00000347927.2:p.Leu1165Phe
ENST00000356589.6:c.3400C>T	ENSP00000348997.2:p.Leu1134Phe
ENST00000371910.1:c.49C>T	ENSP00000360978.1:p.Leu17Phe
ENST00000371916.5:c.*962C>T	ENSP00000360984.2:n.*962C>T
ENST00000371929.7:c.3661C>T	ENSP00000360997.3:p.Leu1221Phe
ENST00000485925.5:n.2309C>T
NM_139025.4:c.3661C>T , LRG_544t1:c.3661C>T	NP_620594.1:p.Leu1221Phe
NM_139026.4:c.3400C>T	NP_620595.1:p.Leu1134Phe
NM_139027.4:c.3493C>T	NP_620596.2:p.Leu1165Phe
NR_024514.2:n.2328C>T
XM_011518174.1:c.3271C>T	XP_011516476.1:p.Leu1091Phe
XM_011518175.1:c.*68C>T	XP_011516477.1:n.*68C>T
XM_011518176.1:c.2677C>T	XP_011516478.1:p.Leu893Phe
XM_011518177.1:c.2671C>T	XP_011516479.1:p.Leu891Phe
XM_011518178.1:c.2326C>T	XP_011516480.1:p.Leu776Phe
XM_011518179.1:c.2326C>T	XP_011516481.1:p.Leu776Phe
XM_011518180.1:c.1927C>T	XP_011516482.1:p.Leu643Phe
XM_011518176.3:c.2677C>T	XP_011516478.1:p.Leu893Phe
XM_011518178.2:c.2326C>T	XP_011516480.1:p.Leu776Phe
XM_017014232.1:c.3649C>T	XP_016869721.1:p.Leu1217Phe
XM_017014233.1:c.3271C>T	XP_016869722.1:p.Leu1091Phe
XM_017014234.2:c.2671C>T	XP_016869723.1:p.Leu891Phe
NM_139026.5:c.3400C>T	NP_620595.1:p.Leu1134Phe
NM_139027.5:c.3493C>T	NP_620596.2:p.Leu1165Phe
NM_139025.5:c.3661C>T	NP_620594.1:p.Leu1221Phe
NM_139026.6:c.3400C>T	NP_620595.1:p.Leu1134Phe
NM_139027.6:c.3493C>T MANE Select	NP_620596.2:p.Leu1165Phe
NR_024514.3:n.2330C>T