Canonical Allele Identifier: CA375391540

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436862-C-T
• MyVariant Identifiers: chr9:g.133436862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436862C>T , CM000671.2:g.133436862C>T	GRCh38
NC_000009.10:g.135291803C>T	NCBI36
NG_011934.2:g.27524C>T , LRG_544:g.27524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1342C>T MANE Select	ENSP00000347927.2:p.Gln448Ter
ENST00000355699.6:c.1342C>T	ENSP00000347927.2:p.Gln448Ter
ENST00000356589.6:c.1249C>T	ENSP00000348997.2:p.Gln417Ter
ENST00000371916.5:c.598C>T	ENSP00000360984.2:p.Gln200Ter
ENST00000371929.7:c.1342C>T	ENSP00000360997.3:p.Gln448Ter
ENST00000474918.1:c.*146C>T	ENSP00000435305.1:n.*146C>T
ENST00000485925.5:n.974-2504C>T
ENST00000495234.5:c.*626C>T	ENSP00000435274.1:n.*626C>T
NM_139025.4:c.1342C>T , LRG_544t1:c.1342C>T	NP_620594.1:p.Gln448Ter
NM_139026.4:c.1249C>T	NP_620595.1:p.Gln417Ter
NM_139027.4:c.1342C>T	NP_620596.2:p.Gln448Ter
NR_024514.2:n.993-2504C>T
XM_011518174.1:c.952C>T	XP_011516476.1:p.Gln318Ter
XM_011518175.1:c.1342C>T	XP_011516477.1:p.Gln448Ter
XM_011518176.1:c.358C>T	XP_011516478.1:p.Gln120Ter
XM_011518177.1:c.352C>T	XP_011516479.1:p.Gln118Ter
XM_011518178.1:c.7C>T	XP_011516480.1:p.Gln3Ter
XM_011518179.1:c.128C>T	XP_011516481.1:p.Ala43Val
XM_011518180.1:c.687-8001C>T	XP_011516482.1:n.687-8001C>T
XM_011518176.3:c.358C>T	XP_011516478.1:p.Gln120Ter
XM_011518178.2:c.7C>T	XP_011516480.1:p.Gln3Ter
XM_017014232.1:c.1330C>T	XP_016869721.1:p.Gln444Ter
XM_017014233.1:c.952C>T	XP_016869722.1:p.Gln318Ter
XM_017014234.2:c.352C>T	XP_016869723.1:p.Gln118Ter
XM_017014235.1:c.1342C>T	XP_016869724.1:p.Gln448Ter
XR_001746171.1:n.2567C>T
NM_139026.5:c.1249C>T	NP_620595.1:p.Gln417Ter
NM_139027.5:c.1342C>T	NP_620596.2:p.Gln448Ter
NM_139025.5:c.1342C>T	NP_620594.1:p.Gln448Ter
NM_139026.6:c.1249C>T	NP_620595.1:p.Gln417Ter
NM_139027.6:c.1342C>T MANE Select	NP_620596.2:p.Gln448Ter
NR_024514.3:n.995-2504C>T