Canonical Allele Identifier: CA375404746

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133448728-G-T
• MyVariant Identifiers: chr9:g.133448728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448728G>T , CM000671.2:g.133448728G>T	GRCh38
NC_000009.10:g.135303670G>T	NCBI36
NG_011934.2:g.39390G>T , LRG_544:g.39390G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2861G>T MANE Select	ENSP00000347927.2:p.Arg954Leu
ENST00000355699.6:c.2861G>T	ENSP00000347927.2:p.Arg954Leu
ENST00000356589.6:c.2768G>T	ENSP00000348997.2:p.Arg923Leu
ENST00000371916.5:c.*330G>T	ENSP00000360984.2:n.*330G>T
ENST00000371929.7:c.2861G>T	ENSP00000360997.3:p.Arg954Leu
ENST00000485925.5:n.1677G>T
ENST00000495234.5:c.*1693G>T	ENSP00000435274.1:n.*1693G>T
NM_139025.4:c.2861G>T , LRG_544t1:c.2861G>T	NP_620594.1:p.Arg954Leu
NM_139026.4:c.2768G>T	NP_620595.1:p.Arg923Leu
NM_139027.4:c.2861G>T	NP_620596.2:p.Arg954Leu
NR_024514.2:n.1696G>T
XM_011518174.1:c.2471G>T	XP_011516476.1:p.Arg824Leu
XM_011518175.1:c.2861G>T	XP_011516477.1:p.Arg954Leu
XM_011518176.1:c.1877G>T	XP_011516478.1:p.Arg626Leu
XM_011518177.1:c.1871G>T	XP_011516479.1:p.Arg624Leu
XM_011518178.1:c.1526G>T	XP_011516480.1:p.Arg509Leu
XM_011518179.1:c.1526G>T	XP_011516481.1:p.Arg509Leu
XM_011518180.1:c.1127G>T	XP_011516482.1:p.Arg376Leu
XM_011518176.3:c.1877G>T	XP_011516478.1:p.Arg626Leu
XM_011518178.2:c.1526G>T	XP_011516480.1:p.Arg509Leu
XM_017014232.1:c.2849G>T	XP_016869721.1:p.Arg950Leu
XM_017014233.1:c.2471G>T	XP_016869722.1:p.Arg824Leu
XM_017014234.2:c.1871G>T	XP_016869723.1:p.Arg624Leu
XR_001746171.1:n.3634G>T
NM_139026.5:c.2768G>T	NP_620595.1:p.Arg923Leu
NM_139027.5:c.2861G>T	NP_620596.2:p.Arg954Leu
NM_139025.5:c.2861G>T	NP_620594.1:p.Arg954Leu
NM_139026.6:c.2768G>T	NP_620595.1:p.Arg923Leu
NM_139027.6:c.2861G>T MANE Select	NP_620596.2:p.Arg954Leu
NR_024514.3:n.1698G>T